Gene Scoring  /  Category S   39 genes

Database updated on June 20, 2019

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Reports:
Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S2
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S6
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S3
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S13
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S8
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic3S8
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation3S4
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S5
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S66
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic3S7
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S17
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic3S2
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic3S5
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional3S10
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S15
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S12
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S7
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association2S7
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S3
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S34
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional2S18
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic3S6
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic3S4
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic3S12
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic2S5
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association3S8
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
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 Association3S27
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S9
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S15
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic3S4
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S8
TTNtitin2Rare Single Gene Mutation, Syndromic3S19
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S6
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
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