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Gene Scoring  /  Category 1   146 genes

Database updated on June 20, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S34
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S6
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic115
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S11
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S10
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation113
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association125
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S41
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S9
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S38
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S17
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic113
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S20
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic117
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association134
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation13
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation13
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic1S16
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S7
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic13
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S41
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional13
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic112
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic1S35
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S31
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic1S25
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional1S42
CASZ1castor zinc finger 11Rare Single Gene Mutation14
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S4
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional1S5
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S5
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association124
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional113
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic120
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association117
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic1S15
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S16
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S15
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional110
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S7
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association1S12
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association18
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic113
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S38
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic1S7
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic1S21
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S16
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S41
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association1S25
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S44
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation15
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation17
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional115
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association138
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association148
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation15
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S12
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association111
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S22
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S5
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation19
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic1S4
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association17
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation18
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S20
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic1S15
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic110
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic19
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic1S15
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic1S31
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S3
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S75
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S27
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S33
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S6
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional1S15
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association116
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S10
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S17
NCKAP1NCK-associated protein 12Rare Single Gene Mutation17
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association1S24
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic119
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S12
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation132
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association130
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation16
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association178
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association110
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association117
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic1S14
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic1S6
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S33
PHF3PHD finger protein 36Rare Single Gene Mutation12
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S25
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic1S13
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic1S3
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association111
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S55
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic1S14
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic1S21
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S6
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional150
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S4
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation13
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association1S6
RFX3regulatory factor X39Rare Single Gene Mutation15
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association16
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association1S53
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic157
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic133
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic112
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic110
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S23
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional132
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S7
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S20
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S13
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S10
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S13
SPASTSpastin2Rare Single Gene Mutation19
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation15
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S36
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S50
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation16
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association124
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic1S10
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association1S42
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S12
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic122
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S15
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic1S19
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association1S29
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional13
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association1S27
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S12
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic1S18
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S17
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional114
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S4
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S21
ZNF292zinc finger protein 2926Rare Single Gene Mutation14
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic1S8
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