Gene Scoring  /  Category 1   25 genes

Database updated on November 21, 2018

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Reports:
Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S27
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation112
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S36
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic112
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S17
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S27
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional1S30
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association114
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association17
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S33
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association148
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation18
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S16
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic19
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association116
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S9
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S22
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S49
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional147
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic153
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S22
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S66
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S44
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association120
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S14
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