Gene Scoring  /  Category S   59 genes

Database updated on January 18, 2018

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S21
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic4S7
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S33
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S32
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S33
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S14
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S13
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S20
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S34
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S15
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S3
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S24
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S27
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S1
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S10
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S16
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S4
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S57
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S8
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S17
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S66
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S29
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S10
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S8
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S27
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S14
KMT2CLysine (K)-specific methyltransferase 2C 7Rare Single Gene Mutation, Syndromic2S13
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic4S10
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S11
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S46
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S44
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S13
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S19
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S29
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association3S34
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S11
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S21
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S40
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S14
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S61
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S6
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S15
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S25
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, Syndromic2S12
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
SMC3structural maintenance of chromosomes 3 10Rare Single Gene Mutation, Syndromic4S6
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S5
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S16
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S6
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