Gene Scoring  /  Category 2   66 genes

Database updated on April 10, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S41
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation23
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S16
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional218
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation223
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation26
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S5
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic2S5
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association221
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S64
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation25
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional26
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S15
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S16
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S44
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association237
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation27
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation25
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 Mutation, Syndromic2S5
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional212
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic26
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic2S15
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association219
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S15
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S3
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S75
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic2S27
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional237
NCKAP1NCK-associated protein 12Rare Single Gene Mutation27
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional26
NLGN3neuroligin 3XRare Single Gene Mutation232
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association278
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional212
PHF3PHD finger protein 36Rare Single Gene Mutation22
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
RANBP17RAN binding protein 175Rare Single Gene Mutation25
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association26
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional232
SETSETnuclear proto-oncogene9Rare Single Gene Mutation24
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association2S20
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional2S10
SPASTSpastin2Rare Single Gene Mutation29
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation25
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional25
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic218
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic2S10
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation27
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic222
UBN2ubinuclein 27Rare Single Gene Mutation23
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic2S12
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S17
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional214
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