Gene Scoring  /  Category S   75 genes

Database updated on August 13, 2018

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional4S12
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S7
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic4S7
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S25
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic4S7
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S35
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S33
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S16
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S36
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S14
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S20
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S17
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S3
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S27
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S27
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S3
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S12
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S9
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 Association2S59
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional4S10
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S18
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S29
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S68
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S10
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S36
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S28
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S8
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic4S7
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S12
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic2S22
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional3S14
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S9
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S16
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic2S14
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional4S11
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S49
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic3S20
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S46
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association4S21
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association4S6
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional3S32
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association2S17
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S43
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic4S5
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S13
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S12
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S22
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic3S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S22
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S66
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic4S6
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S15
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
RNF135Ring finger protein 13517Syndromic, Genetic Association4S2
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic4S6
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic4S6
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association3S38
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S14
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association3S26
TTNtitin2Rare Single Gene Mutation, Syndromic4S17
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S7
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic4S10
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S26
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic2S12
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S15
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S18
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S5
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