Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name APOLD1 gene APOLD1 Literature Bleeding and platelet disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown inherited bleeding disorder 35638551 False 1 0;50;50 3.8 False ENSG00000178878 ENSG00000178878 HGNC:25268 ITGA2 gene ITGA2 Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders BIALLELIC, autosomal or pseudoautosomal 614200 ?Glycoprotein Ia deficiency 10590055 False 1 40;40;20 3.8 False ENSG00000164171 ENSG00000164171 HGNC:6137 MAST2 gene MAST2 Expert Review Red;Literature Bleeding and platelet disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous thromboembolism;Thrombophilia 33465109 False 1 0;0;100 3.8 False ENSG00000086015 ENSG00000086015 HGNC:19035 NBEA gene NBEA Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 28748566 False 1 40;40;20 3.8 False ENSG00000172915 ENSG00000172915 HGNC:7648 PRKACG gene PRKACG Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders BIALLELIC, autosomal or pseudoautosomal ?Bleeding disorder, platelet-type, 19, OMIM:616176;Platelet-type bleeding disorder 19, MONDO:0014518 25061177;30819905 False 1 57;14;29 3.8 False ENSG00000165059 ENSG00000165059 HGNC:9382 STX11 gene STX11 Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders BIALLELIC, autosomal or pseudoautosomal 28399723 False 1 25;50;25 3.8 False ENSG00000135604 ENSG00000135604 HGNC:11429 TLN1 gene TLN1 Literature Bleeding and platelet disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown thrombocytopenia, MONDO:0002049 35861643 False 1 0;0;100 3.8 False ENSG00000137076 ENSG00000137076 HGNC:11845