Gene Scoring  /  Category 2   61 genes

Database updated on August 13, 2018

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association220
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation221
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S36
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S14
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S12
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S16
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S4
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S59
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation23
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional217
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation25
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation24
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional23
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S68
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S36
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association272
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S12
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic2S22
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association236
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic210
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic2S14
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation27
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation24
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation24
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation23
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation25
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic26
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional236
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional211
NCKAP1NCK-associated protein 12Rare Single Gene Mutation27
NLGN3neuroligin 3XRare Single Gene Mutation232
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Functional224
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional29
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association2S17
PHF3PHD finger protein 36Rare Single Gene Mutation22
RANBP17RAN binding protein 175Rare Single Gene Mutation23
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association24
SPASTSpastin2Rare Single Gene Mutation28
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation25
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation23
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional25
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic215
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation28
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic26
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional211
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation220
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic2S12
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S15
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation25
UBN2ubinuclein 27Rare Single Gene Mutation23
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
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