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Copy Number Variants / Xp22.33

Xp22.33

Case population data
Control population data
Type
Deletion-Duplication
Average Length
374846
Range
2541000-3012000
Associated Human Genes
ASMT
Associated Animal Models
-
Autism Reports
35
Populations
43 (37 case / 6 control)
Individuals
209 (164 case / 45 control)
Summary

Summary statement in development

Reports related to Xp22.33 (35 Reports)
# Type Title Author, Year
1 Minor Identifying autism loci and genes by tracing recent shared ancestry. Morrow EM , et al. (2008)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
4 Minor A genotype resource for postmortem brain samples from the Autism Tissue Program. Wintle RF , et al. (2011)
5 Minor Autism in two females with duplications involving Xp11.22-p11.23. Edens AC , et al. (2011)
6 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
7 Major Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. Ben-David E , et al. (2011)
8 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
9 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
10 Minor Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... Lesca G , et al. (2012)
11 Minor Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an... Willemsen MH , et al. (2012)
12 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
13 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
14 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
15 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
16 Minor Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Nava C , et al. (2013)
17 Minor Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. Tropeano M , et al. (2013)
18 Minor Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. Stobbe G , et al. (2013)
19 Minor The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Al-Qattan SM , et al. (2014)
20 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
21 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
22 Minor RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Soueid J , et al. (2016)
23 Minor Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. Oikonomakis V , et al. (2016)
24 Major Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Tropeano M , et al. (2016)
25 Minor 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Rasmussen M , et al. (2016)
26 Major High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families. AlAyadhi LY , et al. (2016)
27 Minor Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Firouzabadi SG , et al. (2016)
28 Minor Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. Ghasemi Firouzabadi S , et al. (2017)
29 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
30 Minor Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. Sansovi I , et al. (2017)
31 Minor Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. Mak ASL , et al. (2017)
32 Major Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders. Napoli E , et al. (2017)
33 Major NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. Al Shehhi M , et al. (2018)
34 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
35 Minor Both rare and common genetic variants contribute to autism in the Faroe Islands. Leblond CS , et al. (2019)
Show all Case Details Show all Cohort Details

Xp22.33

Description:

Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.

Diagnosis:

Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3

Ben-David E , et al. (2011)
Cohort Size: 17

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 171000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

MLPA

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console
Algorithm: Canary, PennCNV
Geographical Ancestry: -

Xp22.33

Description:

Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013

Diagnosis:

Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype

Al-Qattan SM , et al. (2014)
Cohort Size: 584

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1040206

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
Software: Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia

Xp22.33

Description:

ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)

Diagnosis:

All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2

AlAyadhi LY , et al. (2016)
Cohort Size: 22

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 181765

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina HumanOmni 2.5M
Software: Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
Algorithm: CNVPartition v.3.2.0, Penn CNV
Geographical Ancestry: Saudi

Xp22.33

Description:

Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group

Diagnosis:

94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect

Al Shehhi M , et al. (2018)
Cohort Size: 34

Age Min: 240
Age Max: 240
Average: 240

Male: 100
Female: -
Unknown: -
CNV Size: 449766

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")

Platform: Platform N/A
Software: -
Algorithm: -
Geographical Ancestry: Ireland

Xp22.33

Description:

Two female ASD probands with medically refractory epilepsy and severe intellectual disability (ID)

Diagnosis:

ASD. Diagnosis based on Modified Checklist for Autism in Spanish & Autism Diagnostic Interview-Revised (ADI-R) (n=1), or Autism Diagnostic Observation Schedule (ADOS) & Social Communication Questionnaire (n=1)

Edens AC , et al. (2011)
Cohort Size: 2

Age Min: 168
Age Max: 168
Average: 168

Male: -
Female: 100
Unknown: -
CNV Size: 450000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: 1 Honduran/Hispanic, 1 Austrian/European

Xp22.33

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 486231

Deletion: 2
Duplication: 10

Total CNV: 12
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

Xp22.33

Description:

Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father

Diagnosis:

ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism

Firouzabadi SG , et al. (2016)
Cohort Size: 15

Age Min: 156
Age Max: 156
Average: 156

Male: 100
Female: -
Unknown: -
CNV Size: 270000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: BlueGnome CytoChip ISCA 8x60K v2.0
Software: BlueFuse Multi v3
Algorithm: -
Geographical Ancestry: Iranian

Xp22.33

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: 42
Age Max: 216
Average: 129

Male: 50
Female: 50
Unknown: -
CNV Size: 1185455

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -

Xp22.33

Description:

Sporadic Iranian ASD cases with no family history of ASD

Diagnosis:

Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features

Ghasemi Firouzabadi S , et al. (2017)
Cohort Size: 50

Age Min: 156
Age Max: 156
Average: 156

Male: 100
Female: -
Unknown: -
CNV Size: N/A

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

MLPA

Validation Method:

None

Platform: MLPA P036, P070, P343, and P396 kits
Software: -
Algorithm: -
Geographical Ancestry: Iranian

Xp22.33

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3642827

Deletion: 9
Duplication: 21

Total CNV: 30
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis

Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA

Xp22.33

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 31666

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

Xp22.33

Description:

Individuals predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

Kushima I , et al. (2018)
Cohort Size: 2458

Age Min: 528
Age Max: 528
Average: 528

Male: 100
Female: -
Unknown: -
CNV Size: 15440

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

Xp22.33

Description:

Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.

Diagnosis:

All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).

Leblond CS , et al. (2019)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2008800

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization, WES

Validation Method:

None

Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands

Xp22.33

Description:

Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).

Diagnosis:

Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,

Lesca G , et al. (2012)
Cohort Size: 61

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 658000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 Human CGH Microarray 4x180K
Software: Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
Algorithm: ADM-2
Geographical Ancestry: France

Xp22.33

Description:

Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.

Diagnosis:

ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.

Lionel AC , et al. (2013)
Cohort Size: 5384

Age Min: 180
Age Max: 180
Average: 180

Male: 100
Female: -
Unknown: -
CNV Size: 34701

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA

Xp22.33

Description:

Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.

Diagnosis:

Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases

Mak ASL , et al. (2017)
Cohort Size: 258

Age Min: 32
Age Max: 32
Average: 32

Male: -
Female: 100
Unknown: -
CNV Size: 3720000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen CGX-135K or Agilent-CGX 60K
Software: -
Algorithm: -
Geographical Ancestry: Chinese

Xp22.33

Description:

Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.

Diagnosis:

ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)

Morrow EM , et al. (2008)
Cohort Size: 94

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 471000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan

Xp22.33

Description:

Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).

Diagnosis:

Cases assessed with ADI-R

Nava C , et al. (2013)
Cohort Size: 194

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 523000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France

Xp22.33

Description:

Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy

Diagnosis:

Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r

Napoli E , et al. (2017)
Cohort Size: 133

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 36000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

RT-PCR

Platform: Agilent Human Genome 4x180K
Software: Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
Algorithm: ADM-2
Geographical Ancestry: Italy

Xp22.33

Description:

Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 477371

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH

Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A

Xp22.33

Description:

ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

Oikonomakis V , et al. (2016)
Cohort Size: 195

Age Min: 60
Age Max: 60
Average: 60

Male: 100
Female: -
Unknown: -
CNV Size: 15100

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
Software: -
Algorithm: -
Geographical Ancestry: Greece

Xp22.33

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 102412

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European

Xp22.33

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 700338

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -

Xp22.33

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 69
Female: 31
Unknown: -
CNV Size: 276006

Deletion: 9
Duplication: 7

Total CNV: 16
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

Xp22.33

Description:

38 Danish patients (19 index patients and 19 family members) diagnosed with 17q12 deletions and duplications since chromosomal microarray (CMA) became a clinically available diagnostic tool in Denmark in 2006

Diagnosis:

Majority of cases presented with learning disability, delayed motor milestones, and/or delayed language development

Rasmussen M , et al. (2016)
Cohort Size: 38

Age Min: 12
Age Max: 12
Average: 12

Male: -
Female: 100
Unknown: -
CNV Size: 421728

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Agilent 180K, Agilent 400K, Oxford Gene Technology CytoSure Syndrome Plus v2 105K, Illumina HumanCytoSNP-12 v2.1 300K, Affymetrix 250K
Software: -
Algorithm: -
Geographical Ancestry: Denmark

Xp22.33

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

Quintela I , et al. (2017)
Cohort Size: 573

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: 834554

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain

Xp22.33

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 52
Female: 48
Unknown: -
CNV Size: 189030

Deletion: 10
Duplication: 6

Total CNV: 16
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&

Xp22.33

Description:

Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine

Diagnosis:

Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features

Sansovi I , et al. (2017)
Cohort Size: 337

Age Min: 12
Age Max: 12
Average: 12

Male: -
Female: 100
Unknown: -
CNV Size: 598000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia

Xp22.33

Description:

Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).

Diagnosis:

Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.

Tropeano M , et al. (2013)
Cohort Size: 10397

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: 638873

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: 70% Caucasian, 15% African, 15% other/mixed ancestry

Xp22.33

Description:

Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012

Diagnosis:

Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.

Stobbe G , et al. (2013)
Cohort Size: 36

Age Min: 276
Age Max: 276
Average: 276

Male: -
Female: 100
Unknown: -
CNV Size: 577100

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen CGX-3v1.0
Software: NimbleScan 2.5, DNA Analytics 4.0
Algorithm: ADM-1
Geographical Ancestry: N/A

Xp22.33

Description:

Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)

Diagnosis:

All cases fulfilled DSM-V criteria for autism

Soueid J , et al. (2016)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 462000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

Xp22.33

Description:

Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Diagnosis:

Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Soueid J , et al. (2016)
Cohort Size: 35

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

Xp22.33

Description:

Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)

Diagnosis:

Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.

Tropeano M , et al. (2016)
Cohort Size: 18857

Age Min: 360
Age Max: 600
Average: 480

Male: 19
Female: 81
Unknown: -
CNV Size: 1353879

Deletion: 1
Duplication: 44

Total CNV: 45
Discovery Method:

aCGH

Validation Method:

aCGH

Platform: Agilent 60K, OGT Cytosure 4x180K
Software: Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
Algorithm: ADM-2
Geographical Ancestry: United Kingdom and Canada

Xp22.33

Description:

ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)

Diagnosis:

Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.

Tropeano M , et al. (2016)
Cohort Size: 90

Age Min: 360
Age Max: 600
Average: 480

Male: 19
Female: 81
Unknown: -
CNV Size: 488024

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

MLPA, aCGH

Platform: Agilent 60K
Software: Agilent Feature Extraction, Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: United Kingdom

Xp22.33

Description:

Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)

Diagnosis:

26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome

Wintle RF , et al. (2011)
Cohort Size: 34

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 212600

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

Solid phase hybridization

Platform: Affymetrix 6.0, Illumina Human 1M-duo
Software: QuantiSNP, Affymetrix Genotyping Console
Algorithm: PennCNV, Birdsuite, iPattern
Geographical Ancestry: 31 European, 2 East Asian, 1 African

Xp22.33

Description:

Replication cohort consisting of patients referred to the Mayo Clinic

Diagnosis:

Autism or pervasive developmental disorder (PDD)

Vaags AK , et al. (2012)
Cohort Size: 1796

Age Min: 42
Age Max: 42
Average: 42

Male: 100
Female: -
Unknown: -
CNV Size: 84430

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA

Xp22.33

Description:

Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)

Diagnosis:

Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.

Willemsen MH , et al. (2012)
Cohort Size: 4407

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 3000000

Deletion: 2
Duplication: 3

Total CNV: 5
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent 32K BAC array, Affymetrix 250K
Software: CNAG V2.0 (SNP array)
Algorithm: -
Geographical Ancestry: Netherlands
Show all Case Details Show all Cohort Details

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00087

Clinical Profile:

Global developmental delay, dysmorphic features with microcephaly. Non-consanguineous parents. Mother not tested.

Cognitive Profile:

Global developmental delay

Al-Qattan SM , et al. (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 859189
CNV End: 1741237
CNV Size: 882049
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, ASMTL

alayadhi_16_ASD_discovery_cases-caseAUT10-1

Clinical Profile:

CARS score of 36.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 141.

Cognitive Profile:

-

AlAyadhi LY , et al. (2016)
Primary Diagnosis: Autism

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 537126
CNV End: 718891
CNV Size: 181766
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: KRT18P53, SHOX

alayadhi_16_ASD_discovery_cases-caseAUT10-2

Clinical Profile:

CARS score of 33.0; Social Responsiveness Scale (SRS) score of 77; Sensory profile score of 136.

Cognitive Profile:

-

AlAyadhi LY , et al. (2016)
Primary Diagnosis: Autism

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 537126
CNV End: 718891
CNV Size: 181766
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: KRT18P53, SHOX

alayadhi_16_ASD_discovery_cases-caseAUT8-1

Clinical Profile:

CARS score of 43.0; Social Responsiveness Scale (SRS) score of 77; Sensory profile score N/A.

Cognitive Profile:

-

AlAyadhi LY , et al. (2016)
Primary Diagnosis: Autism

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 516687
CNV End: 624390
CNV Size: 107704
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

alayadhi_16_ASD_discovery_cases-caseAUT8-2

Clinical Profile:

CARS score of 40.0; Social Responsiveness Scale (SRS) score of 70; Sensory profile score N/A.

Cognitive Profile:

-

AlAyadhi LY , et al. (2016)
Primary Diagnosis: Autism

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 516687
CNV End: 624390
CNV Size: 107704
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

ben-david_11_ASD_discovery_cases-proband10

Clinical Profile:

NA

Cognitive Profile:

NA

Ben-David E , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 109805
CNV End: 281199
CNV Size: 171000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: PPP2R3B, PLCXD1, GTPBP6

edens_11_ASD_discovery_cases-case1

Clinical Profile:

Abnormal scores on Modified Checklist for Autism in Toddlers in Spanish & ADI-R. Social Communication Questionnaire-Spanish & Developmental Assessment of Young Children evaluations: at or below developmental quotient of 23 (range 10-23) with age equivalents at or below 43 mos. (range 18-43 mos). Developmental milestones: severe speech delay (at 14 yrs., usage of 10-20 single words or two-word phrases), motor delay (walked at 3 yrs.). Epilepsy (tonic-clonic seizures with focal and generalized onset started at 7 mos.; seizures currently well-controlled with valproate & topiamate). Neurological characteristics: aloofness, repetitive page-flipping. EEG: previously abnormal (two distinct wave patterns of isolated or 2-3 Hz bursts of irregular spike-wave complexes); EEG recently normalized. Brain MRI: right mesio-temporal sclerosis, cortical dysplasia. Other: no cranial nerve, cerebellar, motor, or sensory deficits. Dysmorphic features: broad face, midface hypoplasia, prominent forehead, widely spaced eyes, coarse facial features, eczema. Growth parameters: height, 139.5 cm (<3rd %ile); weight, 66 kg (90th %ile); head circumference, 55.5 cm (75th %ile).

Cognitive Profile:

Severe intellectual disability (ID)

Edens AC , et al. (2011)
Primary Diagnosis: ASD

Age: 14 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: NA
CNV End: NA
CNV Size: 450000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -

engchuan_15_ASD_discovery_cases-case13017_223

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2809269
CNV End: 3114013
CNV Size: 304745
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, ARSD-AS1, RN7SL578P, GYG2, ARSD, ARSE, ARSF, XG, ARSH

engchuan_15_ASD_discovery_cases-case20088_1387001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2884527
CNV End: 3370758
CNV Size: 486232
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ARSD-AS1, RN7SL578P, ASS1P4, ARSD, ARSE, ARSF, MXRA5, ARSH, LINC01546

engchuan_15_ASD_discovery_cases-case2295_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3041075
CNV End: 3235433
CNV Size: 194359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL578P, ARSF

engchuan_15_ASD_discovery_cases-case3065_5

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_cases-case3123_8

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_cases-case3472_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_cases-case3606_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_cases-case4197_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3041075
CNV End: 3235433
CNV Size: 194359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL578P, ARSF

engchuan_15_ASD_discovery_cases-case4255_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_cases-case4281_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_cases-case4443_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3202739
CNV End: 3249061
CNV Size: 46323
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5387_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

firouzabadi_16_ASD_discovery_cases-patient6

Clinical Profile:

Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Additional medical history: gastrointestinal problems. Dysmorphic features: dysmorphic facial features.

Cognitive Profile:

Intellectual disability

Firouzabadi SG , et al. (2016)
Primary Diagnosis: ASD

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 1208695
CNV End: 1478975
CNV Size: 270281
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3690, RNA5SP498, LINC00106, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMTL

ghasemi_firouzabadi_16_ASD_discovery_cases-p32

Clinical Profile:

Dysmorphic facial features, gastrointestinal problems

Cognitive Profile:

Intellectual disability

Ghasemi Firouzabadi S , et al. (2017)
Primary Diagnosis: ASD

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case27819

Clinical Profile:

Normal tone. Bilateral hearing loss. Dysmorphic features: overfolded superior helices, epicanthal folds, grey sclera, narrow palate. Congenital anomalies: Langer mesomelic dysplasia with Madelung deformity. Growth parameters: height <3rd %ile, OFC normal. Family history: mother has Madelung deformity; father has Leri-Weill dyschondrosteosis.

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: MCA

Age: 3.5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 912865
CNV End: 1387756
CNV Size: 474892
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, MIR3690, RNA5SP498, CRLF2, CSF2RA, IL3RA, SLC25A6

girirajan_12_ASD/DD/ID_discovery_cases-case28231

Clinical Profile:

Congenital anomalies: MRKH syndrome, polycystic kidneys. All other measures not specified.

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: MCA

Age: 18 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 369005
CNV End: 1356302
CNV Size: 987298
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, PPP2R3B, CRLF2, CSF2RA, IL3RA, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000007

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 937335
CNV End: 1308697
CNV Size: 371363
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, MIR3690, RNA5SP498, CRLF2, CSF2RA

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000378

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 10679
CNV End: 868396
CNV Size: 857718
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000391

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1112022
CNV End: 1275096
CNV Size: 163075
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CRLF2, CSF2RA

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001143

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 10679
CNV End: 803222
CNV Size: 792544
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001572

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2782275
CNV End: 2904175
CNV Size: 121901
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, ARSD, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001744

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 537125
CNV End: 1116923
CNV Size: 579799
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: KRT18P53, RPL14P5, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001803

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 404594
CNV End: 631152
CNV Size: 226559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001830

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 413881
CNV End: 843100
CNV Size: 429220
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002041

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 483809
CNV End: 884538
CNV Size: 400730
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002227

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 26102
CNV End: 3730888
CNV Size: 3704787
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, DHRSX-IT1, MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, RN7SL578P, ASS1P4, SNORA48B, RNU6-114P, RNU6-146P, PRKX-AS1, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, CD99, GYG2, ARSD, ARSE, ARSF, MXRA5, SHOX, ASMTL, DHRSX, ZBED1, CD99P1, XG, ARSH, LINC01546, PRKX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002261

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1352986
CNV End: 2308701
CNV Size: 955716
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00106, AKAP17A, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, ASMTL, DHRSX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002277

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 17245
CNV End: 127157
CNV Size: 109912
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002368

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 518527
CNV End: 621127
CNV Size: 102601
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002480

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 537126
CNV End: 718891
CNV Size: 181766
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: KRT18P53, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002531

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2960878
CNV End: 3567038
CNV Size: 606161
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL578P, ASS1P4, SNORA48B, ARSE, ARSF, MXRA5, ARSH, LINC01546

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003931

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 803178
CNV End: 953090
CNV Size: 149913
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003941

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2777300
CNV End: 2877956
CNV Size: 100657
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004134

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2777300
CNV End: 2877956
CNV Size: 100657
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004208

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 314203
CNV End: 820565
CNV Size: 506363
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, GTPBP6, PPP2R3B, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004467

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 10679
CNV End: 3551518
CNV Size: 3540840
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, DHRSX-IT1, MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, RN7SL578P, ASS1P4, SNORA48B, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, CD99, GYG2, ARSD, ARSE, ARSF, MXRA5, SHOX, ASMTL, DHRSX, ZBED1, CD99P1, XG, ARSH, LINC01546

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004477

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1520382
CNV End: 1863771
CNV Size: 343390
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: AKAP17A, P2RY8, ASMT

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004779

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2444467
CNV End: 2970550
CNV Size: 526084
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, CD99, GYG2, ARSD, ARSE, DHRSX, ZBED1, CD99P1, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004784

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 371393
CNV End: 1339321
CNV Size: 967929
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, PPP2R3B, CRLF2, CSF2RA, IL3RA, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004966

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 644560
CNV End: 1112081
CNV Size: 467522
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004979

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2777300
CNV End: 2877956
CNV Size: 100657
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004987

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2777300
CNV End: 2877956
CNV Size: 100657
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005185

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1729621
CNV End: 1947725
CNV Size: 218105
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005195

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2790845
CNV End: 2877956
CNV Size: 87112
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005248

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 937335
CNV End: 1264950
CNV Size: 327616
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, CRLF2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005322

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 10679
CNV End: 1633117
CNV Size: 1622439
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, SHOX, ASMTL

krumm_15_ASD_discovery_cases-case13196.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 3080890
CNV End: 3112556
CNV Size: 31667
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

lesca_12_EP_discovery_cases-case017a

Clinical Profile:

Phenotype: LKS-woESES. Seizure Characteristics: Nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.

Cognitive Profile:

Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 79, performance IQ 83 (at 10 years of age)

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 563645
CNV End: 691501
CNV Size: 127857
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

lesca_12_EP_discovery_cases-caseEB86

Clinical Profile:

Phenotype: LKS-woESES. Seizure Characteristics: Awake, atypical absences. Autistic features: No. ADHD features: Yes. Other features: None.

Cognitive Profile:

Initial cognitive development: Delayed. Cognitive regression: Yes. IQ of 74 (at 7 years of age).

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 757324
CNV End: 1216959
CNV Size: 459636
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, CRLF2

lionel_13_ASD/SCZ/EP_discovery_cases-proband3

Clinical Profile:

Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.

Cognitive Profile:

Intellectual disability

Lionel AC , et al. (2013)
Primary Diagnosis: ASD and ID

Age: 15 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 694636
CNV End: 729336
CNV Size: 34701
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

mak_17_ASD_discovery_cases-case3

Clinical Profile:

Global developmental delay, short stature, ASD

Cognitive Profile:

-

Mak ASL , et al. (2017)
Primary Diagnosis: ASD and developmental delay

Age: 32 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 335784
CNV End: 4103179
CNV Size: 3767396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, DHRSX-IT1, MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, RN7SL578P, ASS1P4, SNORA48B, RNU6-114P, RNU6-146P, PRKX-AS1, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, CD99, GYG2, ARSD, ARSE, ARSF, MXRA5, SHOX, ASMTL, DHRSX, ZBED1, CD99P1, XG, ARSH, LINC01546, PRKX

morrow_08_ASD_discovery_cases-case5601

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 2748000
CNV End: 2952000
CNV Size: 204000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: GYG2, ARSD, ARSE

morrow_08_ASD_discovery_cases-case6301

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 2551000
CNV End: 3022000
CNV Size: 471000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: CD99, XG, GYG2, ARSD, ARSE

napoli_17_ASD_discovery_cases-case6

Clinical Profile:

Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY

Cognitive Profile:

-

Napoli E , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 1601689
CNV End: 1646152
CNV Size: 44464
Validation Description: RT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: AKAP17A, ASMT

nava_13_ASD_discovery_cases-Fam1006Proband10007

Clinical Profile:

Additional clinical profile info N/A

Cognitive Profile:

ID

Nava C , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 1007787
CNV End: 1332269
CNV Size: 324483
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RPL14P5, MIR3690, RNA5SP498, CRLF2, CSF2RA

nava_13_ASD_discovery_cases-Fam587Proband10722

Clinical Profile:

Additional clinical profile info N/A

Cognitive Profile:

ID

Nava C , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 1627957
CNV End: 1664505
CNV Size: 36549
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal, present in affected brother
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 77270
CNV End: 161182
CNV Size: 83912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40429

Clinical Profile:

Database: Signature. Indication for study: Te Fistula

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 10001
CNV End: 517337
CNV Size: 507337
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, PLCXD1, GTPBP6, PPP2R3B

oikonomakis_16_ASD_discovery_cases-case288

Clinical Profile:

Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: speech delay, dolichocephaly

Cognitive Profile:

-

Oikonomakis V , et al. (2016)
Primary Diagnosis: ASD

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 1612778
CNV End: 1627869
CNV Size: 15092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case5387_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

prasad_12_ASD_discovery_cases-case101121L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2019039
CNV End: 2184946
CNV Size: 165908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case114961L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2290478
CNV End: 2313952
CNV Size: 23475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case125391

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2440161
CNV End: 2543293
CNV Size: 103133
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NCRNA00102, CD99P1

prasad_12_ASD_discovery_cases-case131698

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2302992
CNV End: 2307482
CNV Size: 4491
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case143178

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2239268
CNV End: 2262996
CNV Size: 23729
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case143178

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2282899
CNV End: 2289078
CNV Size: 6180
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case154267L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 2128189
CNV End: 2390326
CNV Size: 262138
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case32794

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2019039
CNV End: 2184946
CNV Size: 165908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case47029

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2302992
CNV End: 2307482
CNV Size: 4491
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case51674

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1619547
CNV End: 1628231
CNV Size: 8685
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case52401

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2288678
CNV End: 2313952
CNV Size: 25275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case54089

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2382384
CNV End: 2385428
CNV Size: 3045
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case57224L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2382384
CNV End: 2385428
CNV Size: 3045
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case62227L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2014899
CNV End: 2290904
CNV Size: 276006
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case64374L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1683684
CNV End: 1686394
CNV Size: 2711
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case72085

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2319097
CNV End: 2325935
CNV Size: 6839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

quintela_17_DD/ID_discovery_cases-caseID_553

Clinical Profile:

Additional clinical information N/A

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 9 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 606447
CNV End: 1282842
CNV Size: 676396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL14P5, CRLF2, CSF2RA, SHOX

rasmussen_16_17q12CNV_discovery_cases-dup12.1

Clinical Profile:

Birth/neonatal history: gestational age 41+1; birth weight 4460 g (roughly +2 SD), length 56 cm (roughly +3 SD), OFC 37 cm (roughly +2 SD). Developmental milestones: normal motor milestones (sitting at 6 months, crawling at 5 months); normal language development thus far. Behavioral/psychiatric evaluation: hyperactivity. Epilepsy/seizures: complex partial epilepsy with secondary generalization from age of 2 months. Brain imaging: normal CT at 10 months, normal MRI at 1 year. Additional medical history: kidney ultrasound at 1 year showed right duplex collecting system; dysphagia. Dysmorphic features: bilateral epicanthus. Growth parameters: weight of 10.2 kg (roughly M), height of 79 cm (roughly +2 SD), and OFC of 46 cm (roughly M) at 1 year.

Cognitive Profile:

-

Rasmussen M , et al. (2016)
Primary Diagnosis: Epilepsy

Age: 1 yr.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 470230
CNV End: 891958
CNV Size: 421728
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -

rosenfeld_10_ASD_discovery_cases-case27668

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1693892
CNV End: 2394230
CNV Size: 700338
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ASMT, DHRSX

sanders_11_ASD_discovery_cases-11173.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-11464.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 4320463
CNV End: 4336774
CNV Size: 16312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11716.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 16.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-11918.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 4320463
CNV End: 4330618
CNV Size: 10156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11940.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 8.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2903409
CNV End: 2904560
CNV Size: 1152
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12076.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2782116
CNV End: 2896119
CNV Size: 114004
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-12152.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2782116
CNV End: 2904212
CNV Size: 122097
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, ARSD, XG

sanders_11_ASD_discovery_cases-12184.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 12.9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2903409
CNV End: 2907362
CNV Size: 3954
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ARSD-AS1, ARSD

sanders_11_ASD_discovery_cases-12211.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 3300311
CNV End: 3306419
CNV Size: 6109
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12221.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 2782116
CNV End: 2895246
CNV Size: 113131
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-12360.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-12385.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-12561.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 2782116
CNV End: 2896119
CNV Size: 114004
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_cases-12661.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.4

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 4320463
CNV End: 4328184
CNV Size: 7722
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13021.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 12.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 4320463
CNV End: 4363393
CNV Size: 42931
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13196.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 3067252
CNV End: 3256282
CNV Size: 189031
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sansovic_17_DD/ID/ASD_discovery_cases-case72

Clinical Profile:

Developmental delay/intellectual disability

Cognitive Profile:

-

Sansovi I , et al. (2017)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 1 yr.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3395900
CNV End: 3993880
CNV Size: 597981
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORA48B, RNU6-114P, RNU6-146P, PRKX-AS1, PRKX

soueid_16_ASD_discovery_cases-caseBAK45

Clinical Profile:

Case fulfilled DSM-V criteria for autism; no other information available

Cognitive Profile:

-

Soueid J , et al. (2016)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 1722498
CNV End: 2385281
CNV Size: 662784
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DHRSX-IT1, DHRSX

stobbe_13_ASD_discovery_cases-case24

Clinical Profile:

Preauricular tag, uterine didelphys, scoliosis. Negative family history. Karyotype and Fragile X testing: not performed.

Cognitive Profile:

Intellectual disability

Stobbe G , et al. (2013)
Primary Diagnosis: Autism, ID, and epilepsy

Age: 23 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (possible simplex)
CNV Start: 946904
CNV End: 1325847
CNV Size: 378944
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (possible simplex)
Genome Build: GRCh38
Gene Content: RPL14P5, MIR3690, RNA5SP498, CRLF2, CSF2RA

tropeano_13_DD/ASD_discovery_cases-case38

Clinical Profile:

ASD, Asperger syndrome

Cognitive Profile:

-

Tropeano M , et al. (2013)
Primary Diagnosis: ASD

Age: 9 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 659532
CNV End: 1158987
CNV Size: 499456
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case1

Clinical Profile:

Intrauterine growth restriction (IUGR), premature birth (30 weeks + 6 days), Motor delay, not able to sit or roll over, Large anterior fontanel, Flat nasal bridge, Small ears, other dysmorphic features, Caf au lait spots on right knee

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Motor delay

Age: < 2 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 11090
CNV End: 1196831
CNV Size: 1185742
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, PLCXD1, GTPBP6, PPP2R3B, CRLF2, SHOX

tropeano_16_ASD/NDD_replication_cases-case13

Clinical Profile:

Food fads/compulsion, Delayed (atypical) cognitive development, Speech & language development disorder, Learning difficulties, Reading /spelling development disorder, Arithmetic development disorder, some repetitive behaviors, Syndactyly toes 2-3, Blond hair

Cognitive Profile:

Delayed (atypical) cognitive development, learning disabilties

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay and intellectual disability

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 252397
CNV End: 657301
CNV Size: 404905
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case14

Clinical Profile:

Developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay and epilepsy

Age: < 4 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 253124
CNV End: 698632
CNV Size: 445509
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case15

Clinical Profile:

Learning disability, depression, micrognathia, bulbous nose

Cognitive Profile:

Learning disability

Tropeano M , et al. (2016)
Primary Diagnosis: Learning disability

Age: 20- 26 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 270843
CNV End: 647030
CNV Size: 376188
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case16

Clinical Profile:

Macrocephaly, developmental delay, Epilepsy, physical dysmorphism

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay and epilepsy

Age: 10- 16 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1116864
CNV End: 1570717
CNV Size: 453854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3690, RNA5SP498, LINC00106, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMTL

tropeano_16_ASD/NDD_replication_cases-case2

Clinical Profile:

Delayed dental eruption, Delayed (atypical) cognitive development, Developmental delay, Motor skills development disorder, Speech & language development disorder, Hypotonia, Hypermobility, Deep set eyes, Small nose, Thin upper lip, Clinodactyly, Mottled skin

Cognitive Profile:

Delayed (atypical) cognitive development

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay and intellectual disability

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 11090
CNV End: 1296076
CNV Size: 1284987
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, SHOX

tropeano_16_ASD/NDD_replication_cases-case23

Clinical Profile:

Global developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: 4- 10 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 335747
CNV End: 772798
CNV Size: 437052
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case25

Clinical Profile:

Feeding intolerance, Seizures, Hypotonia, Vision impairment, Micrognathia, Nasal stenosis, Bilateral coloboma, Multiple congenital anomalies, Hypocalcemia. Family history: Family history of Down syndrome

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Epilepsy

Age: < 2 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 369139
CNV End: 1028654
CNV Size: 659516
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, RPL14P5, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case29

Clinical Profile:

Delayed motor development (not independently walking at 25 months), unstable gait, Low muscle tone, Hypermobile joints (lower limbs more than upper limbs). Family history: Father, paternal sisters and one brother all have knee complaints.

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Motor delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 381281
CNV End: 1133767
CNV Size: 752487
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, RPL14P5, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case30

Clinical Profile:

Asperger's syndrome, ADHD, Sleep problems, Recurrent nosebleeds. Family history: Father has behavioural problems, and paternal half-sister (mother) son has ADHD

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and ADHD

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: Possibly paternal

Family Profile: Multi-generational
CNV Start: 381281
CNV End: 1156500
CNV Size: 775220
Validation Description: aCGH
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, RPL14P5, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case31

Clinical Profile:

Developmental delay, Brain abnormality on MRI, Nystagmus, Congenital heart defects

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay and structural brain abnormality

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 388994
CNV End: 638729
CNV Size: 249736
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case32

Clinical Profile:

Developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: 10- 16 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 391777
CNV End: 635396
CNV Size: 243620
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case34

Clinical Profile:

Developmental delay, autistic features

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: 4- 10 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 391777
CNV End: 635396
CNV Size: 243620
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case35

Clinical Profile:

Developmental delay, cerebellar atrophy

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay and structural brain abnormality

Age: 10- 16 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 391777
CNV End: 635396
CNV Size: 243620
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case36

Clinical Profile:

Developmental delay, ASD

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and developmental delay

Age: 4- 10 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 391777
CNV End: 635396
CNV Size: 243620
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case39

Clinical Profile:

Developmental delay, Dysmorphic Features

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 391777
CNV End: 635396
CNV Size: 243620
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case42

Clinical Profile:

Intellectual disability, developmental delay, gross motor delay, fine motor delay, Speech delay, Selective mutism, ASD, Anxiety, Outer ear abnormality (unfolded helix). Family history: Mother and maternal grandmother have anxiety; Paternal uncle described as late talking and "quiet".

Cognitive Profile:

Intellectual disability

Tropeano M , et al. (2016)
Primary Diagnosis: ASD, developmental delay and intellectual disability

Age: 6- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 421741
CNV End: 754521
CNV Size: 332781
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case43

Clinical Profile:

Learning difficulties, ADHD

Cognitive Profile:

Learning difficulties

Tropeano M , et al. (2016)
Primary Diagnosis: ADHD

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 426565
CNV End: 657301
CNV Size: 230737
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case44

Clinical Profile:

Borderline microcephaly, head circumference 2 SD < mean, Glaucoma, Bitemporal narrowing, Proptosis, Preaxial polydactyly (bifid thumbs bilaterally), Mitral cleft, Multiple congenital anomalies

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Microcephaly and MCA

Age: < 2 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 453684
CNV End: 698632
CNV Size: 244949
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case46

Clinical Profile:

Moderate cognitive delay (IQ 35-49), Developmental delay, learning difficulties

Cognitive Profile:

Moderate cognitive delay (IQ 35-49)

Tropeano M , et al. (2016)
Primary Diagnosis: ASD, developmental delay and intellectual disability

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 467495
CNV End: 637062
CNV Size: 169568
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case47

Clinical Profile:

Developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 4 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 469696
CNV End: 831447
CNV Size: 361752
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case48

Clinical Profile:

Developmental delay, Autism

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and developmental delay

Age: 14- 20 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 469696
CNV End: 917061
CNV Size: 447366
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case49

Clinical Profile:

Speech delay, moderate learning difficulties, sleep problems, vision impairment, hearing impairment

Cognitive Profile:

Moderate learning difficulties

Tropeano M , et al. (2016)
Primary Diagnosis: Speech delay

Age: 10- 16 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 521204
CNV End: 635473
CNV Size: 114270
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case50

Clinical Profile:

Learning difficulties, protruding jaw, protruding eyes, dysmorphic features, Chronic venous drainage pathway of the lower limb, History of transposition of great arteries as a baby, Presented with Hodgkins lymphoma

Cognitive Profile:

Learning difficulties

Tropeano M , et al. (2016)
Primary Diagnosis: Learning difficulties

Age: 14- 20 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 521204
CNV End: 635473
CNV Size: 114270
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case51

Clinical Profile:

Microcephaly, Delayed motor development (walked at 2.5 years), Speech delay (first words at 4 years), Autism, Triangular face, Midfacial hypoplasia, Short palpebral fissures, Long lashes, Long nose, Short philtrum, Thin upper lip, Long fingers, Very dry skin on hands.

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and motor delay

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 521204
CNV End: 635473
CNV Size: 114270
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case54

Clinical Profile:

Microcephaly, premature birth, hypotonia

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Microcephaly

Age: < 2 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 521204
CNV End: 697523
CNV Size: 176320
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case56

Clinical Profile:

Autism

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 521204
CNV End: 782125
CNV Size: 260922
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case58

Clinical Profile:

Cognitive delay, Delay in comprehension and expressive language

Cognitive Profile:

Cognitive delay

Tropeano M , et al. (2016)
Primary Diagnosis: ASD, developmental delay and intellectual disability

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 521204
CNV End: 858508
CNV Size: 337305
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_cases-case6

Clinical Profile:

Speech delay, autistic traits

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Speech delay

Age: < 4 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 237394
CNV End: 703881
CNV Size: 466488
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case61

Clinical Profile:

Moderate intellectual disability, Developmental delay, Short stature, Weight for age >97th percentile, BMI 43.1, Intrauterine growth restriction (IUGR), Severe obstructive sleep apnea, Facial dysmorphism (high arched palate, short neck), Brachydactyly bilateral, Coarctation of aorta, Agenesis of testicle, Multiple nevi on torso.

Cognitive Profile:

Moderate intellectual disability

Tropeano M , et al. (2016)
Primary Diagnosis: ASD, developmental delay and intellectual disability

Age: 54- 60 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 548658
CNV End: 664036
CNV Size: 115379
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case64

Clinical Profile:

Developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 566769
CNV End: 1293756
CNV Size: 726988
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, CRLF2, CSF2RA, SHOX

tropeano_16_ASD/NDD_replication_cases-case65

Clinical Profile:

Premature birth, global developmental delay, autism spectrum disorder

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and developmental delay

Age: 4- 10 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 575329
CNV End: 1086822
CNV Size: 511494
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_cases-case7

Clinical Profile:

Developmental delay, hypotonia

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 2 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 237394
CNV End: 703881
CNV Size: 466488
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_cases-case72

Clinical Profile:

Developmental delay, Autism, Seizures, Hypotonia

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD, epilepsy, and developmental delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 600892
CNV End: 754521
CNV Size: 153630
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case73

Clinical Profile:

Developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: 4- 10 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 600892
CNV End: 1352516
CNV Size: 751625
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, MIR3690, RNA5SP498, CRLF2, CSF2RA, IL3RA, SHOX

tropeano_16_ASD/NDD_replication_cases-case74

Clinical Profile:

Microcephaly, global developmental delay, absent speech

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 623772
CNV End: 858508
CNV Size: 234737
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case76

Clinical Profile:

Severe ASD

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD

Age: < 4 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 627966
CNV End: 1086822
CNV Size: 458857
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_cases-case77

Clinical Profile:

Motor delay, speech and language delay, hearing impairment, Prominent forehead, Low set ears and short ear lobes, Heart disease (e.g. atrial septal defect, ventricular septal defect). Family history: father with diabetes; grandmother (paternal) had deafness; Maternal family history consistent with x-linked ichthyosis.

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Motor and speech delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 629899
CNV End: 858508
CNV Size: 228610
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case79

Clinical Profile:

Global developmental delay, Microcephaly, short stature, Weight (for age) <3rd percentile, Severe gastroesophageal reflux disease (GERD), hypotonia, blindness

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 635337
CNV End: 891129
CNV Size: 255793
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case80

Clinical Profile:

Developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 3 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 640811
CNV End: 1132649
CNV Size: 491839
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_cases-case86

Clinical Profile:

Global developmental delay

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Developmental delay

Age: < 2 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 646405
CNV End: 1158987
CNV Size: 512583
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_cases-case87

Clinical Profile:

Mild cognitive delay (IQ 50-69), Reading / spelling development disorder, Arithmetic development disorder, Possible epilepsy (age of onset >24 months)

Cognitive Profile:

Mild cognitive delay (IQ 50-69)

Tropeano M , et al. (2016)
Primary Diagnosis: Intellectual disability

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 646405
CNV End: 1158987
CNV Size: 512583
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_cases-case88

Clinical Profile:

Intellectual disability (very low IQ), Mild language difficulties, stereotyped language and odd vocabulary reported; described as selectively mute in his early years, but made good progress since SLT and at school, Reading / spelling development disorder, Dyslexia, Arithmetic development disorder, Autism, Prominent chin, Horizontal palepral fissures. Family history: mother has family history of psychiatric disorders; Her cousin has Asperger's syndrome, and his son has ASD; Other cousin has a daughter with ADHD and ASD.

Cognitive Profile:

Intellectual disability (very low IQ)

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and intellectual disability

Age: 4- 10 years

Gender: M
Primary Disorder Inheritence: Possibly maternal

Family Profile: Multi-generational
CNV Start: 646405
CNV End: 1158987
CNV Size: 512583
Validation Description: aCGH
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_cases-case89

Clinical Profile:

Developmental delay, severe ASD, seizures, sleep problems

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD and developmental delay

Age: 10- 16 years

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 649761
CNV End: 772798
CNV Size: 123038
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_cases-case99

Clinical Profile:

Panayiotopoulos syndrome (childhood epilepsy)

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Epilepsy

Age: 4- 10 years

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 589722
CNV End: 635473
CNV Size: 45752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD_discovery_cases-MAAS12

Clinical Profile:

Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Language and communication evaluation: no history of language delay. Behavioral/psychiatric evaluation: history of depression and anxiety symptoms; pervasive difficulties with reciprocal social communication, restricted interests and repetitive behaviors (motor mannerisms) since early childhood, scored above cut-off for autism on ADOS, met ICD-10 diagnostic criteria for autism. Growth parameters: height 159.5 cm (25th-50th %ile).

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD

Age: 40-49 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 325789
CNV End: 697523
CNV Size: 371735
Validation Description: MLPA or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, PPP2R3B, SHOX

tropeano_16_ASD_discovery_cases-MAAS14

Clinical Profile:

Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 1 (confirmed diagnosis of ADHD). Language and communication evaluation: no history of language delay. Behavioral/psychiatric evaluation: pervasive difficulties with reciprocal social communication and restricted interests since early childhood, scored above cut-off for autism on ADOS, met ICD-10 diagnostic criteria for autism. Growth parameters: height 166.4 cm (50th-75th %ile).

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD

Age: 50-59 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 325789
CNV End: 813813
CNV Size: 488025
Validation Description: MLPA or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, PPP2R3B, SHOX

tropeano_16_ASD_discovery_cases-MAAS21

Clinical Profile:

Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD

Age: 30-39 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 1196622
CNV End: 1674646
CNV Size: 478025
Validation Description: MLPA or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3690, RNA5SP498, LINC00106, AKAP17A, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, ASMTL

vaags_11_ASD_replication_cases_2-probandF4-003

Clinical Profile:

Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay

Cognitive Profile:

Leiter-R IQ: incomplete (test attempted but proband failed to complete)

Vaags AK , et al. (2012)
Primary Diagnosis: Autism

Age: 3 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 17768
CNV End: 102197
CNV Size: 84430
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

willemsen_12_DD/ID_discovery_cases-case1

Clinical Profile:

Chondroplasia punctata

Cognitive Profile:

Intellectual disability

Willemsen MH , et al. (2012)
Primary Diagnosis: Intellectual disability

Age: -

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 320651
CNV End: 3281959
CNV Size: 2961309
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, DHRSX-IT1, MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, RN7SL578P, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, CD99, GYG2, ARSD, ARSE, ARSF, SHOX, ASMTL, DHRSX, ZBED1, CD99P1, XG, ARSH, LINC01546

willemsen_12_DD/ID_discovery_cases-case2

Clinical Profile:

MCA (skeletal)

Cognitive Profile:

-

Willemsen MH , et al. (2012)
Primary Diagnosis: Multiple congenital anomalies

Age: -

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 283333
CNV End: 1901107
CNV Size: 1617775
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not tested)
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, SHOX, ASMTL

willemsen_12_DD/ID_discovery_cases-case35

Clinical Profile:

Acoustic canal atresia, multiple congenital anomalies (MCA)

Cognitive Profile:

Intellectual disability

Willemsen MH , et al. (2012)
Primary Diagnosis: Intellectual disability

Age: -

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 303333
CNV End: 2481959
CNV Size: 2178627
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not tested)
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, DHRSX-IT1, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, SHOX, ASMTL, DHRSX

willemsen_12_DD/ID_discovery_cases-case36

Clinical Profile:

Intellectual disability

Cognitive Profile:

Intellectual disability

Willemsen MH , et al. (2012)
Primary Diagnosis: Intellectual disability

Age: -

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 1661107
CNV End: 3421959
CNV Size: 1760853
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: DHRSX-IT1, MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, RN7SL578P, ASS1P4, CD99, GYG2, ARSD, ARSE, ARSF, MXRA5, DHRSX, ZBED1, CD99P1, XG, ARSH, LINC01546

willemsen_12_DD/ID_discovery_cases-case37

Clinical Profile:

MCA

Cognitive Profile:

-

Willemsen MH , et al. (2012)
Primary Diagnosis: Multiple congenital anomalies

Age: -

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 1901107
CNV End: 3251959
CNV Size: 1350853
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not tested)
Family Profile: -
Genome Build: GRCh38
Gene Content: DHRSX-IT1, MIR6089, LINC00102, GYG2-AS1, ARSD-AS1, RN7SL578P, CD99, GYG2, ARSD, ARSE, ARSF, DHRSX, ZBED1, CD99P1, XG, ARSH

wintle_10_ASD_discovery_cases-AN14829

Clinical Profile:

Suspected autism

Cognitive Profile:

-

Wintle RF , et al. (2011)
Primary Diagnosis: Autism

Age: 26

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 2353258
CNV End: 2565902
CNV Size: 212645
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DHRSX, ZBED1

al_shehhi_18_ASD/DD/ID_discovery_cases-case27

Clinical Profile:

ASD, speech and language delay

Cognitive Profile:

No learning disability

Al Shehhi M , et al. (2018)
Primary Diagnosis: ASD and developmental delay

Age: 20 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2691700
CNV End: 3141465
CNV Size: 449766
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, ARSD-AS1, RN7SL578P, CD99, GYG2, ARSD, ARSE, ARSF, XG, ARSH

kushima_18_SCZ_discovery_cases-caseSCZ1193

Clinical Profile:

Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include delusions, hallucinations, cenesthopathy, compulsive behaviors). Family history: positive.

Cognitive Profile:

IQ > 70

Kushima I , et al. (2018)
Primary Diagnosis: Schizophrenia

Age: 44 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Not simplex
CNV Start: 621471
CNV End: 636910
CNV Size: 15440
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: -

leblond_19_ASD_discovery_cases-casePN400559

Clinical Profile:

Diagnosis of Asperger syndrome. Behavioral/psychiatric evaluation: sleep disturbance.

Cognitive Profile:

Full-scale IQ 92, performance IQ 92, verbal IQ 92

Leblond CS , et al. (2019)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 284183
CNV End: 2291608
CNV Size: 2007426
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, MIR3690, RNA5SP498, LINC00106, AKAP17A, PLCXD1, GTPBP6, PPP2R3B, CRLF2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, P2RY8, ASMT, SHOX, ASMTL, DHRSX
Show all Control Details Show all Cohort Details

Xp22.33

Description:

Persons found to have no overt neurological disorders during screening for other studies

Diagnosis:

Control

Girirajan S , et al. (2012)
Cohort Size: 8329

Age Min: 42
Age Max: 216
Average: 129

Male: 50
Female: 50
Unknown: -
CNV Size: 1185455

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Software: -
Algorithm: -
Geographical Ancestry: -

Xp22.33

Description:

Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 381485

Deletion: 0
Duplication: 13

Total CNV: 13
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

Xp22.33

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA

Xp22.33

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 44456

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

Xp22.33

Description:

Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.

Diagnosis:

Control

Nguyen LS , et al. (2013)
Cohort Size: 20474

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

N/A

Validation Method:

N/A

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A

Xp22.33

Description:

Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.

Kushima I , et al. (2018)
Cohort Size: 2095

Age Min: 528
Age Max: 528
Average: 528

Male: 100
Female: -
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

Xp22.33

Description:

PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.

Diagnosis:

Control

Prasad A , et al. (2013)
Cohort Size: 5139

Age Min: -
Age Max: -
Average: -

Male: 69
Female: 31
Unknown: -
CNV Size: 276006

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: NA

Xp22.33

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 52
Female: 48
Unknown: -
CNV Size: 102411

Deletion: 9
Duplication: 2

Total CNV: 11
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: -

Xp22.33

Description:

Control cohort of normal participants

Diagnosis:

Control

Soueid J , et al. (2016)
Cohort Size: 37

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

Xp22.33

Description:

Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data

Diagnosis:

Controls

Wintle RF , et al. (2011)
Cohort Size: 2357

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 212600

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

N/A

Validation Method:

-

Platform: N/A
Software: N/A
Algorithm: N/A
Geographical Ancestry: 99% European

Xp22.33

Description:

Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)

Diagnosis:

Control

Tropeano M , et al. (2013)
Cohort Size: 11277

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
Software: -
Algorithm: -
Geographical Ancestry: 77% Caucasian, 8.5% African, 14.5% other/mixed ancestry

Xp22.33

Description:

Population-based controls, including 11589 individuals whose microarray data analyzed at the Centre for Applied Genetics (TCAG, Toronto, Canada) and 1005 controls from Population Diagnostics (PDx, Melville, USA)

Diagnosis:

Control

Tropeano M , et al. (2016)
Cohort Size: 12594

Age Min: 360
Age Max: 600
Average: 480

Male: 19
Female: 81
Unknown: -
CNV Size: 819069

Deletion: 4
Duplication: 16

Total CNV: 20
Discovery Method:

aCGH, array SNP

Validation Method:

-

Platform: Affymetrix SNP 6.0, Agilent 1 M
Software: Birdsuite, iPattern, Affymetrix Genotyping Console, DNA Analytics v4.0.85, and DNAcopy
Algorithm: ADM-2
Geographical Ancestry: United States and Canada, 79% European ancestry
Show all Control Details Show all Cohort Details

engchuan_15_ASD_discovery_controls-control110036019271_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3656756
CNV End: 3734876
CNV Size: 78121
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PRKX-AS1, PRKX

engchuan_15_ASD_discovery_controls-control110036020337_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2895246
CNV Size: 113131
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-control110036022572_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3041075
CNV End: 3237100
CNV Size: 196026
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL578P, ARSF

engchuan_15_ASD_discovery_controls-controlB314967_1007873656

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-controlB431282_1007873513

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-controlB551574_1007873713

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3041075
CNV End: 3235433
CNV Size: 194359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL578P, ARSF

engchuan_15_ASD_discovery_controls-controlB662268_1007853570

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-controlB803589_1007875376

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-controlB973477_1007842438

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3051711
CNV End: 3237100
CNV Size: 185390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL578P, ARSF

engchuan_15_ASD_discovery_controls-controlHABC_900206_900206

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-controlHABC_900664_900664

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 3163601
CNV Size: 381486
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, ARSD-AS1, RN7SL578P, GYG2, ARSD, ARSE, ARSF, XG, ARSH

engchuan_15_ASD_discovery_controls-controlHABC_902581_902581

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 2782116
CNV End: 2895246
CNV Size: 113131
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

engchuan_15_ASD_discovery_controls-controlHABC_902861_902861

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3509030
CNV End: 3746033
CNV Size: 237004
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORA48B, RNU6-114P, RNU6-146P, PRKX-AS1, PRKX

krumm_15_ASD_discovery_controls-control11788.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 3068100
CNV End: 3112556
CNV Size: 44457
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11045.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_controls-11716.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 11.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_controls-11901.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 3728376
CNV End: 3746033
CNV Size: 17658
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11918.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 12.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 4320463
CNV End: 4330618
CNV Size: 10156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12117.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 3306419
CNV End: 3310055
CNV Size: 3637
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12211.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 11.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 3300311
CNV End: 3306419
CNV Size: 6109
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12561.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 2782116
CNV End: 2884527
CNV Size: 102412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GYG2-AS1, GYG2, XG

sanders_11_ASD_discovery_controls-12597.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 5.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 4326634
CNV End: 4361359
CNV Size: 34726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12610.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 4328009
CNV End: 4361359
CNV Size: 33351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12661.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 11.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 4320463
CNV End: 4330618
CNV Size: 10156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13233.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 10.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 4320463
CNV End: 4363393
CNV Size: 42931
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control1

Clinical Profile:

Control cohort: Starr County Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 285772
CNV End: 704670
CNV Size: 418899
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_controls-control10

Clinical Profile:

Control cohort: Geneva NHS/HPFS Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 439373
CNV End: 686815
CNV Size: 247443
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control12

Clinical Profile:

Control cohort: POPGEN

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 490259
CNV End: 809468
CNV Size: 319210
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control15

Clinical Profile:

Control cohort: POPGEN

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 519852
CNV End: 642009
CNV Size: 122158
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control16

Clinical Profile:

Control cohort: Geneva NHS/HPFS Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 537900
CNV End: 722126
CNV Size: 184227
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control17

Clinical Profile:

Control cohort: Geneva NHS/HPFS Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 537900
CNV End: 722126
CNV Size: 184227
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control18

Clinical Profile:

Control cohort: Geneva NHS/HPFS Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 543619
CNV End: 959750
CNV Size: 416132
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control19

Clinical Profile:

Control cohort: Geneva NHS/HPFS Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 552634
CNV End: 741478
CNV Size: 188845
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control20

Clinical Profile:

Control cohort: Starr County Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 554276
CNV End: 1060773
CNV Size: 506498
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL14P5, SHOX

tropeano_16_ASD/NDD_replication_controls-control21

Clinical Profile:

Control cohort: Population Diagnostics (PDx)

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 563645
CNV End: 630203
CNV Size: 66559
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control22

Clinical Profile:

Control cohort: HapMap (Phase 3) controls

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 587305
CNV End: 686815
CNV Size: 99511
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control23

Clinical Profile:

Control cohort: Ottawa Heart Institute controls

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 621450
CNV End: 741478
CNV Size: 120029
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control24

Clinical Profile:

Control cohort: Population Diagnostics (PDx)

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 634997
CNV End: 710803
CNV Size: 75807
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control25

Clinical Profile:

Control cohort: Starr County Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 654010
CNV End: 704670
CNV Size: 50661
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control26

Clinical Profile:

Control cohort: Starr County Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 285772
CNV End: 1060773
CNV Size: 775002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00685, FABP5P13, KRT18P53, RPL14P5, PLCXD1, GTPBP6, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_controls-control27

Clinical Profile:

Control cohort: Geneva NHS/HPFS Diabetes study

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 372540
CNV End: 876695
CNV Size: 504156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_controls-control28

Clinical Profile:

Control cohort: Population Diagnostics (PDx)

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 478115
CNV End: 891616
CNV Size: 413502
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, SHOX

tropeano_16_ASD/NDD_replication_controls-control31

Clinical Profile:

Control cohort: Ottawa Heart Institute controls

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 642009
CNV End: 721514
CNV Size: 79506
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

tropeano_16_ASD/NDD_replication_controls-control7

Clinical Profile:

Control cohort: Population Diagnostics (PDx)

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 371861
CNV End: 693070
CNV Size: 321210
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, PPP2R3B, SHOX

tropeano_16_ASD/NDD_replication_controls-control8

Clinical Profile:

Control cohort: Population Diagnostics (PDx)

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 378245
CNV End: 655725
CNV Size: 277481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P13, KRT18P53, PPP2R3B, SHOX
Genes associated with Xp22.33(0 Models)
ASMT 5  /  9 Rare Single Gene Mutation, Genetic Association
Score
4
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