Gene Scoring / Category 2 66 genes
Database updated on June 20, 2019
Category:
Reports:
Reports:
Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
---|---|---|---|---|---|---|---|
ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 41 | |
BAZ2B | bromodomain adjacent to zinc finger domain 2B | 2 | Rare Single Gene Mutation | 2 | 3 | ||
BCKDK | Branched chain ketoacid dehydrogenase kinase | 16 | Rare Single Gene Mutation | 2 | 3 | ||
BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 16 | |
CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 18 | ||
CACNA1H | calcium channel, voltage-dependent, alpha 1H subunit | 16 | Rare Single Gene Mutation | 2 | 23 | ||
CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
CEP41 | testis specific, 14 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
CIC | capicua transcriptional repressor | 19 | Rare Single Gene Mutation, Functional | 2 | S | 5 | |
CNOT3 | CCR4-NOT transcription complex subunit 3 | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
CNTN4 | contactin 4 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 21 | ||
CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 64 | |
CTNND2 | Catenin (cadherin-associated protein), delta 2 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
CUX1 | cut like homeobox 1 | 7 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic | 2 | S | 16 | |
DIP2C | disco interacting protein 2 homolog C | 10 | Rare Single Gene Mutation | 2 | 2 | ||
ERBIN | erbb2 interacting protein | 5 | Rare Single Gene Mutation | 2 | 5 | ||
FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | 44 | |
GABRB3 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 37 | ||
GIGYF2 | GRB10 interacting GYF protein 2 | 2 | Rare Single Gene Mutation | 2 | 7 | ||
GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
GRIP1 | glutamate receptor interacting protein 1 | 12 | Rare Single Gene Mutation | 2 | 12 | ||
ILF2 | Interleukin enhancer binding factor 2 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
INTS6 | Integrator complex subunit 6 | 13 | Rare Single Gene Mutation | 2 | 4 | ||
IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
KAT2B | K(lysine) acetyltransferase 2B | 3 | Rare Single Gene Mutation | 2 | 6 | ||
KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 12 | ||
KDM6A | lysine demethylase 6A | X | Rare Single Gene Mutation, Syndromic | 2 | 6 | ||
KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
LEO1 | LEO1 homolog, Paf1/RNA polymerase II complex component | 15 | Rare Single Gene Mutation | 2 | 3 | ||
MACROD2 | MACRO domain containing 2 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 19 | ||
MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 3 | |
MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 75 | |
MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic | 2 | S | 4 | |
MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 27 | |
MET | met proto-oncogene (hepatocyte growth factor receptor) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 37 | ||
NCKAP1 | NCK-associated protein 1 | 2 | Rare Single Gene Mutation | 2 | 7 | ||
NCOR1 | nuclear receptor corepressor 1 | 17 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
NLGN3 | neuroligin 3 | X | Rare Single Gene Mutation | 2 | 32 | ||
NRXN1 | neurexin 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 78 | ||
MSNP1AS | Moesinpseudogene 1, antisense | 5 | Genetic Association, Functional | 2 | 12 | ||
PHF3 | PHD finger protein 3 | 6 | Rare Single Gene Mutation | 2 | 2 | ||
PTCHD1 | patched domain containing 1 | X | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
RANBP17 | RAN binding protein 17 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
RIMS1 | Regulating synaptic membrane exocytosis 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
SCN9A | sodium voltage-gated channel alpha subunit 9 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
SHANK2 | SH3 and multiple ankyrin repeat domains 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 32 | ||
SET | SETnuclear proto-oncogene | 9 | Rare Single Gene Mutation | 2 | 4 | ||
SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 20 | |
SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 10 | |
SPAST | Spastin | 2 | Rare Single Gene Mutation | 2 | 9 | ||
SRCAP | Snf2 related CREBBP activator protein | 16 | Rare Single Gene Mutation | 2 | 5 | ||
SRSF11 | serine and arginine rich splicing factor 11 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
TAOK2 | TAO kinase 2 | 16 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
TBL1XR1 | transducin beta like 1 X-linked receptor 1 | 3 | Rare Single Gene Mutation, Syndromic | 2 | 18 | ||
TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic | 2 | S | 10 | |
TNRC6B | Trinucleotide repeat containing 6B | 22 | Rare Single Gene Mutation | 2 | 7 | ||
TRIO | Trio Rho guanine nucleotide exchange factor | 5 | Rare Single Gene Mutation, Syndromic | 2 | 22 | ||
UBN2 | ubinuclein 2 | 7 | Rare Single Gene Mutation | 2 | 3 | ||
UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 2 | S | 12 | |
USP15 | ubiquitin specific peptidase 15 | 12 | Rare Single Gene Mutation | 2 | 3 | ||
USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 7 | |
WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | 17 | |
WDFY3 | WD repeat and FYVE domain containing 3 | 4 | Rare Single Gene Mutation, Functional | 2 | 14 |