Gene Scoring  /  Category S   186 genes

Database updated on February 1, 2023

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Reports:
Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S8
ADGRL1adhesion G protein-coupled receptor L119Rare Single Gene Mutation, Syndromic3S5
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S64
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S9
AGO2argonaute RISC catalytic component 28Rare Single Gene Mutation, Syndromic2S2
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S24
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S14
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S62
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S6
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic2S4
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S17
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S69
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic2S12
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S24
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S40
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic2S8
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional2S21
ATP2B1ATPase plasma membrane Ca2+ transporting 112Rare Single Gene Mutation, Syndromic3S2
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Functional1S24
BICRABRD4 interacting chromatin remodeling complex associated protein19Rare Single Gene Mutation, Syndromic2S2
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S16
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic1S8
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S29
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S58
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S11
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S7
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional1S49
CELF2CUGBP Elav-like family member 210Rare Single Gene Mutation, Syndromic2S4
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic2S11
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic, Functional1S13
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation, Syndromic2S7
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic, Functional1S69
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S12
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S37
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S84
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic2S10
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic, Functional2S12
CNOT1CCR4-NOT transcription complex subunit 116Rare Single Gene Mutation, Syndromic2S8
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S15
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S84
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S35
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic1S5
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic3S3
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional1S15
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S22
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic3S9
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic2S12
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S42
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S25
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S19
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic2S4
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S11
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S26
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S66
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S18
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S35
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S21
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic2S10
FGF13fibroblast growth factor 13XSyndromic3S2
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S52
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S51
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S64
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional2S14
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic1S4
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association2S17
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 115Rare Single Gene Mutation, Syndromic, Functional2S12
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional1S12
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation, Syndromic2S5
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation, Syndromic2S6
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S33
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation, Syndromic2S4
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S47
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S11
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S10
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic, Functional2S25
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic1S20
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S3
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S11
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic, Functional2S12
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S40
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S28
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association1S17
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S22
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S41
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S14
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S109
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic2S5
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S8
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S44
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S46
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S12
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic1S6
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic3S2
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S29
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S17
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S9
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S22
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S33
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic2S5
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S17
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Functional2S22
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S11
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic1S26
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S12
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association2S8
PABPC1poly(A) binding protein cytoplasmic 18Rare Single Gene Mutation, Syndromic3S6
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic1S13
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S10
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S54
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S14
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S21
PJA1praja ring finger ubiquitin ligase 1XSyndromic3S1
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S54
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S8
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S9
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S8
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic2S9
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic1S27
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S10
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic3S8
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S7
PSMD12proteasome 26S subunit, non-ATPase 1217Rare Single Gene Mutation, Syndromic1S4
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S80
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S23
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S32
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association1S9
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S4
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S5
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association2S5
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional1S10
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic2S16
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic1S4
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association2S41
SCAF4SR-related CTD associated factor 421Rare Single Gene Mutation, Syndromic2S5
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S85
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Functional1S8
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic, Functional2S18
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S31
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S125
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S15
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S5
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S44
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S20
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S26
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S16
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic2S11
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S19
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S16
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S9
SRRM2serine/arginine repetitive matrix 216Rare Single Gene Mutation, Syndromic2S12
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S66
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation, Syndromic2S8
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S84
TAF4TATA-box binding protein associated factor 420Rare Single Gene Mutation, Syndromic2S4
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S14
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic1S7
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S3
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S16
TCEAL1transcription elongation factor A like 1XRare Single Gene Mutation, Syndromic3S2
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S62
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S19
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S8
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S30
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic2S11
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S30
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S47
TTNtitin2Rare Single Gene Mutation, Syndromic2S27
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S39
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic2S9
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S17
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic, Functional2S11
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S14
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S26
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S26
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S9
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S7
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S29
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S8
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S8
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic1S8
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S11
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic1S11
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