Gene Scoring  /  Category S   89 genes

Database updated on April 10, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S34
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S11
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S41
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic4S9
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic1S38
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S20
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional4S13
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S16
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic4S3
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S7
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic4S7
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S4
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S31
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional1S42
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic4S4
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S5
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic2S5
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S64
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic4S7
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S15
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S16
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association3S12
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S38
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S21
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S16
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic4S5
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S44
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional4S10
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional4S12
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional4S22
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic2S5
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S12
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic4S7
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S20
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic2S15
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S15
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S31
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S3
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S75
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic2S27
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S33
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional3S15
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S10
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S4
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional4S17
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S11
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic4S4
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic3S10
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S25
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic4S6
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S13
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S55
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S14
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic3S21
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic4S6
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association4S6
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association4S3
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association4S26
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S53
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic4S6
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S23
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S71
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic4S7
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association2S20
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional2S10
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic4S8
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional3S36
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S15
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S50
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic2S10
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association3S42
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic4S12
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S15
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association3S29
TTNtitin2Rare Single Gene Mutation, Syndromic4S18
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S27
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic4S3
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic4S8
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S5
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic2S12
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S17
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S21
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S8
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