Gene Scoring  /  Category 3   58 genes

Database updated on February 23, 2022

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
AGAP5ArfGAP with GTPase domain, ankyrin repeat and PH domain 510Rare Single Gene Mutation31
BRINP3BMP/retinoic acid inducible neural specific 31Rare Single Gene Mutation, Functional32
CACNB1calcium voltage-gated channel auxiliary subunit beta 117Rare Single Gene Mutation32
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S5
CDONcell adhesion associated, oncogene regulated11Rare Single Gene Mutation32
CHD9chromodomain helicase DNA binding protein 916Rare Single Gene Mutation35
CHMCHMRab escort proteinXRare Single Gene Mutation36
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic32
CLIP2CAP-Gly domain containing linker protein 27Genetic Association31
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional33
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 16Rare Single Gene Mutation34
FABP4fatty acid binding protein 48Rare Single Gene Mutation32
FGF13fibroblast growth factor 13XSyndromic3S2
FGF14fibroblast growth factor 1413Rare Single Gene Mutation31
FXNfrataxin9Rare Single Gene Mutation31
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 16Rare Single Gene Mutation, Syndromic37
IGF1insulin like growth factor 112Rare Single Gene Mutation, Functional38
KAT6Blysine acetyltransferase 6B10Rare Single Gene Mutation, Syndromic36
KIZkizuna centrosomal protein20Genetic Association, Functional32
KNG1kininogen 13Rare Single Gene Mutation31
LAS1LLAS1 like ribosome biogenesis factorXRare Single Gene Mutation, Syndromic35
LDLRlow density lipoprotein receptor19Rare Single Gene Mutation31
MAPK8IP1mitogen-activated protein kinase 8 interacting protein 111Rare Single Gene Mutation34
MAST3microtubule associated serine/threonine kinase 319Rare Single Gene Mutation, Functional36
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic32
MAPTmicrotubule associated protein tau17Genetic Association, Functional33
MSRAmethionine sulfoxide reductase A8Genetic Association, Functional311
MYLKmyosin light chain kinase3Rare Single Gene Mutation32
MYOCDmyocardin17Rare Single Gene Mutation32
NCAPH2non-SMC condensin II complex subunit H222Rare Single Gene Mutation31
NXF1nuclear RNA export factor 111Rare Single Gene Mutation32
NKX2-2NK2 homeobox 220Genetic Association, Functional32
PEBP4phosphatidylethanolamine binding protein 48Rare Single Gene Mutation31
PHF14PHD finger protein 147Rare Single Gene Mutation, Syndromic35
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha3Rare Single Gene Mutation, Syndromic37
PJA1praja ring finger ubiquitin ligase 1XSyndromic31
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S8
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S9
PTDSS1phosphatidylserine synthase 18Rare Single Gene Mutation, Syndromic35
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S3
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S4
SENP1SUMO specific peptidase 112Rare Single Gene Mutation32
SYBUsyntabulin8Rare Single Gene Mutation31
SYCE1synaptonemal complex central element protein 110Rare Single Gene Mutation31
SYPsynaptophysinXRare Single Gene Mutation33
TBX22T-box transcription factor 22XRare Single Gene Mutation32
TFB2Mtranscription factor B2, mitochondrial1Rare Single Gene Mutation31
TMEM134transmembrane protein 13411Rare Single Gene Mutation32
TNRC6Ctrinucleotide repeat containing adaptor 6C17Rare Single Gene Mutation35
TRAPPC2Ltrafficking protein particle complex 2 like16Rare Single Gene Mutation, Syndromic33
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional34
TNS2tensin 212Rare Single Gene Mutation31
UNC5Dunc-5 netrin receptor D8Rare Single Gene Mutation33
VWA7von Willebrand factor A domain containing 76Rare Single Gene Mutation31
WWP1WW domain containing E3 ubiquitin protein ligase 18Rare Single Gene Mutation32
XRCC6X-ray repair cross complementing 622Rare Single Gene Mutation32
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S9
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