Gene Scoring  /  Category 1   135 genes

Database updated on June 20, 2019

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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, Functional137
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, Syndromic110
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation113
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association125
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic143
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic110
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic142
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic117
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic114
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic122
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic120
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association136
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation14
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation14
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic116
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic18
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic13
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional143
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic115
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic136
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic134
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic15
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic127
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional146
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional15
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic17
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association127
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional114
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic121
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association120
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic119
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic116
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional111
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic18
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association112
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association18
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional142
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic17
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic123
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic117
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional142
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association126
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional148
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation16
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation17
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association151
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation14
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic16
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional113
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association111
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional125
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic15
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation111
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic15
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic110
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic120
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic115
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic111
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic110
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic116
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic132
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic16
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional180
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic14
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic131
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic16
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association117
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic113
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional118
NCKAP1NCK-associated protein 12Rare Single Gene Mutation18
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association124
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic113
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation134
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic119
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation16
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association181
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association111
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association118
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic114
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic16
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional134
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic17
PHF3PHD finger protein 36Rare Single Gene Mutation13
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic111
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic129
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, Syndromic114
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, Functional160
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic116
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic121
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional151
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association16
RFX3regulatory factor X39Rare Single Gene Mutation15
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association16
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association158
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic161
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic133
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic113
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic111
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic123
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional133
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional177
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic17
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association124
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional115
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional111
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association113
SPASTSpastin2Rare Single Gene Mutation110
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation15
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional140
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic153
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation16
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association125
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic110
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association144
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic113
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic123
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic116
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic120
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association130
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional13
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association127
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic112
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic120
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic117
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional116
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic122
ZNF292zinc finger protein 2926Rare Single Gene Mutation14
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic19
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