Gene Scoring  /  Category S   62 genes

Database updated on January 13, 2021

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S5
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S5
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S4
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S9
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S5
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S17
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association1S20
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S8
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S5
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic3S8
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation3S4
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic3S5
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S7
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S71
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional3S13
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic3S8
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic3S2
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic3S6
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional3S12
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
FGF13fibroblast growth factor 13XSyndromic3S1
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S16
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation2S4
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation2S5
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation2S2
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S16
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S6
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S10
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S4
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional2S21
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic3S5
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Functional3S19
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association3S8
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S10
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S9
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S8
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S8
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association3S4
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic3S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association3S34
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S3
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S3
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S12
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic3S3
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S4
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S18
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S4
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S6
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S17
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S9
TTNtitin2Rare Single Gene Mutation, Syndromic3S23
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S8
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S11
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S7
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S4
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S6
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