Gene Scoring  /  Category S   102 genes

Database updated on July 10, 2017

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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, FunctionalS8
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicS4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, SyndromicS7
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene MutationS5
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S14
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S20
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, SyndromicS9
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicS1
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S28
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S30
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, SyndromicS5
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationS18
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, SyndromicS28
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase) 15SyndromicS2
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic AssociationS12
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationS15
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicS8
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic AssociationS37
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationS34
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S19
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, FunctionalS39
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene MutationS6
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S31
ARXaristaless related homeoboxXRare Single Gene Mutation, SyndromicS13
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S12
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S22
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, SyndromicS20
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S24
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S9
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, SyndromicS12
HEPACAMhepatic and glial cell adhesion molecule11Rare Single Gene Mutation, SyndromicS7
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S7
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S12
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S4
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S1
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S55
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, SyndromicS7
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S63
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic AssociationS21
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S9
PSMD12proteasome 26S subunit, non-ATPase 1217SyndromicS1
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S43
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SLC45A1solute carrier family 45 member 11Rare Single Gene Mutation, SyndromicS2
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S27
RAI1retinoic acid induced 117Rare Single Gene Mutation, SyndromicS16
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S40
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, FunctionalS6
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S25
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, SyndromicS12
PCDH19protocadherin 19XRare Single Gene Mutation, SyndromicS18
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S17
SGSHN-sulfoglucosamine sulfohydrolase17SyndromicS4
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic AssociationS11
SOX5SRY (sex determining region Y)-box 512Rare Single Gene MutationS9
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S9
PCCApropionyl-CoA carboxylase alpha subunit13SyndromicS9
PCCBpropionyl-CoA carboxylase beta subunit3SyndromicS7
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, SyndromicS2
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S16
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, FunctionalS11
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S12
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, SyndromicS7
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalS6
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S8
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicS4
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
PACS1phosphofurin acidic cluster sorting protein 111SyndromicS4
PIK3R2Phosphoinositide-3-kinase, regulatory subunit 2 (beta)19Rare Single Gene Mutation, SyndromicS3
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicS5
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicS4
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
OCRLoculocerebrorenal syndrome of LoweXSyndromicS4
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic AssociationS31
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
TSC1tuberous sclerosis 19Rare Single Gene Mutation, SyndromicS16
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic AssociationS23
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S6
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S38
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S13
YY1YY1 transcription factor14Syndromic, FunctionalS3
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S16
STAG1stromal antigen 13SyndromicS1
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicS3
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S24
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, Syndromic2S11
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, SyndromicS16
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3
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