Gene Scoring  /  Category 1   25 genes

Database updated on April 10, 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, Functional1S34
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation113
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S38
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic113
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S20
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S31
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional1S42
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association117
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association18
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S38
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association148
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation19
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S20
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic110
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association116
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S25
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S55
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional150
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic157
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S23
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S50
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association124
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S15
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