Gene Scoring  /  Category S   149 genes

Database updated on December 6, 2021

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S5
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S52
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S6
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S15
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S12
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S51
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S5
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S4
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S11
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S56
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S9
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S19
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S29
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S5
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S17
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic1S21
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S12
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association1S20
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S47
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S8
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S5
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic1S39
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic3S8
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation3S4
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S55
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S10
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic1S30
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S66
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional1S6
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic3S5
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S7
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S8
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S71
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional3S13
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic3S8
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic1S27
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S20
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S18
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic3S2
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S10
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association1S18
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S52
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic1S10
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S28
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S18
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic3S6
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S44
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association1S29
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S52
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional3S12
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
FGF13fibroblast growth factor 13XSyndromic3S1
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S16
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S29
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S33
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S8
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation2S4
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation2S5
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation2S2
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S16
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic1S13
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S6
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S10
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S27
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S21
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic1S18
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S38
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S11
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S90
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S4
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S35
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S40
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S9
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional2S21
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S14
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S7
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S19
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association1S25
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic3S5
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S13
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Functional3S19
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic1S21
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association3S8
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic1S7
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S10
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S9
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S38
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S11
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S14
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S36
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S5
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic1S18
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S3
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic1S3
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S65
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic1S17
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S8
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S8
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic1S25
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association1S7
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association3S4
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic3S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association3S34
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association1S68
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S3
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S3
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S12
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S28
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S92
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S13
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic3S3
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S4
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S36
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S18
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S18
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S14
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S14
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S49
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S4
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S6
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S17
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S63
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic1S11
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S52
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S17
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S7
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S21
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S9
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic1S21
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association1S34
TTNtitin2Rare Single Gene Mutation, Syndromic3S23
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association1S31
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S8
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S16
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S11
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic1S20
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S21
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S25
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic1S10
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S7
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S4
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S6
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