Gene Scoring  /  Category 1   24 genes

Database updated on January 18, 2018

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S21
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S33
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S32
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S15
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S27
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation110
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association142
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation112
CUL3Cullin 32Rare Single Gene Mutation113
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association17
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association115
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S14
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation17
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation18
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4Rare Single Gene Mutation16
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S46
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S13
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional144
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association119
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S21
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S40
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic149
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S61
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