Gene Scoring  /  Category 1   194 genes

Database updated on October 29, 2020

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Reports:
Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional143
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic16
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic115
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic111
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic111
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation117
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association126
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic146
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic111
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic150
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic118
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic117
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation12
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic126
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic123
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional141
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation16
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation14
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic119
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic18
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic14
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional147
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation113
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation17
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional14
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic117
CASZ1castor zinc finger 11Rare Single Gene Mutation14
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic137
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional111
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic15
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic140
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic17
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic129
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional157
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional16
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic18
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association130
CORO1Acoronin 1A16Rare Single Gene Mutation11
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic12
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional116
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic122
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association122
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic123
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic119
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic117
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional19
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional111
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic19
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association118
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association, Functional114
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association111
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic117
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional148
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic19
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional126
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation14
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation14
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic117
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional144
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association128
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional150
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association143
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association138
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation111
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation17
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation14
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation12
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation11
GNAI1G protein subunit alpha i17Rare Single Gene Mutation13
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association156
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation15
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation16
HIVEP2HIVEP zinc finger 26Syndromic, Functional18
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic16
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional115
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional129
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic17
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic12
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation112
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic111
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association110
KDM3Blysine demethylase 3B5Syndromic11
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional115
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic112
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic122
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional119
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association110
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic112
KIAA0232KIAA02324Rare Single Gene Mutation12
LDB1LIM domain binding 110Rare Single Gene Mutation12
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic111
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic116
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional136
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic110
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional187
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation11
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation13
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic14
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic134
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic17
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association121
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic113
MKXmohawk homeobox10Rare Single Gene Mutation11
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic17
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional119
NCKAP1NCK-associated protein 12Rare Single Gene Mutation110
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association125
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic113
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation136
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic17
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic18
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional188
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation12
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association111
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association118
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic119
NUP155nucleoporin 1555Rare Single Gene Mutation11
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic16
PAX5Paired box 59Rare Single Gene Mutation17
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional138
PHF2PHD finger protein 29Rare Single Gene Mutation17
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic110
PHF3PHD finger protein 36Rare Single Gene Mutation14
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic112
PHF12PHD finger protein 1217Rare Single Gene Mutation12
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional134
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic15
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic115
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic13
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic13
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association111
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional163
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation11
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation12
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation15
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic116
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic124
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional153
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association17
RFX3regulatory factor X39Rare Single Gene Mutation17
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association18
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional17
SATB1SATB homeobox 13Rare Single Gene Mutation12
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association167
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic171
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic136
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic113
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic114
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic126
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional136
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional188
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic111
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association129
SKISKIproto-oncogene1Rare Single Gene Mutation13
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional118
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional112
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional17
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association114
SPASTSpastin2Rare Single Gene Mutation111
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation15
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional145
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic160
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation12
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic110
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic13
TBCKTBC1 domain containing kinase4Syndromic11
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic122
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional130
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic111
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional148
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation14
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic115
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic16
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic126
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic120
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic121
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association134
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation11
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation12
TRIM23tripartite motif containing 235Rare Single Gene Mutation14
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional13
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association128
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic115
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic120
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic119
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional118
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation12
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic125
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic15
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation14
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic19
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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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