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 ADAMTS13 gene ADAMTS13 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 False 3 83;17;0 2.5 False ENSG00000160323 ENSG00000160323 HGNC:1366 F2 gene F2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 188050 Thrombophilia due to thrombin defect;613679 Hypoprothrombinemia;613679 Dysprothrombinemia;613679 Factor II deficiency False 3 80;20;0 2.5 False ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 227400 Factor V deficiency;188055 {Thrombophilia, susceptibility to, due to factor V Leiden};188055 Thrombophilia due to activated protein C resistance False 3 80;20;0 2.5 False ENSG00000198734 ENSG00000198734 HGNC:3542 FGA gene FGA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic, autosomal or pseudoautosomal 202400 Afibrinogenemia, congenital;105200 Amyloidosis, familial visceral;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital False 3 80;20;0 2.5 False ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Afibrinogenemia, congenital, OMIM:202400;Hypofibrinogenemia, congenital, OMIM:202400;Dysfibrinogenemia, congenital, OMIM:616004;Thrombophilia, MONDO:0002305 False 3 80;20;0 2.5 False ENSG00000171564 ENSG00000171564 HGNC:3662 FGG gene FGG Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Afibrinogenemia, congenital, OMIM:202400;Hypofibrinogenemia, congenital, OMIM:202400;Dysfibrinogenemia, congenital, OMIM:616004;Hypodysfibrinogenemia, OMIM:616004;Thrombophilia, MONDO:0002305 False 3 80;20;0 2.5 False ENSG00000171557 ENSG00000171557 HGNC:3694 HRG gene HRG Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombophilia due to HRG deficiency, OMIM:613116 False 3 80;20;0 2.5 False ENSG00000113905 ENSG00000113905 HGNC:5181 PIGA gene PIGA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause X-LINKED: hemizygous mutation in males, biallelic mutations in females 300818 Paroxysmal nocturnal hemoglobinuria, somatic False 3 80;20;0 2.5 False ENSG00000165195 ENSG00000165195 HGNC:8957 PLG gene PLG Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, OMIM:217090;Dysplasminogenemia, OMIM:217090 False 3 80;20;0 2.5 False ENSG00000122194 ENSG00000122194 HGNC:9071 PROC gene PROC Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304;Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860 False 3 80;20;0 2.5 False ENSG00000115718 ENSG00000115718 HGNC:9451 PROS1 gene PROS1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336;Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514 False 3 80;20;0 2.5 False ENSG00000184500 ENSG00000184500 HGNC:9456 SERPINC1 gene SERPINC1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia due to antithrombin III deficiency, OMIM:613118 False 3 80;20;0 2.5 False ENSG00000117601 ENSG00000117601 HGNC:775 SERPIND1 gene SERPIND1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombophilia due to heparin cofactor II deficiency, OMIM:612356 False 3 80;20;0 2.5 False ENSG00000099937 ENSG00000099937 HGNC:4838 SERPINE1 gene SERPINE1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 613329 Plasminogen activator inhibitor-1 deficiency False 3 80;20;0 2.5 False ENSG00000106366 ENSG00000106366 HGNC:8583 THBD gene THBD Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Thrombophilia with a likely monogenic cause MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombophilia due to thrombomodulin defect, OMIM:614486 False 3 80;20;0 2.5 False ENSG00000178726 ENSG00000178726 HGNC:11784