Gene Scoring  /  Category 1   24 genes

Database updated on July 10, 2017

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Reports:
Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S20
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S28
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S30
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S12
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S24
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation110
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association141
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation111
CUL3Cullin 32Rare Single Gene Mutation113
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association17
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation17
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S43
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional141
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association114
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S16
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S12
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic143
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation18
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4Rare Single Gene Mutation15
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association118
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S38
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