Gene Scoring  /  Category S   42 genes

Database updated on October 29, 2020

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S4
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S7
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S5
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S14
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
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic3S5
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S6
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S68
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic3S11
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, Genetic Association, Functional3S12
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S16
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S14
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S8
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S4
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S35
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional2S18
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
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S7
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 Association3S29
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S3
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S10
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic3S3
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S17
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S6
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S9
TTNtitin2Rare Single Gene Mutation, Syndromic3S23
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S7
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S6
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S4
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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