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 ABCG5 gene ABCG5 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Platelet disorder;Sitosterolemia and Thrombocytopenia 16029460;21576934;19846887;28696550;27291889 False 3 100;0;0 1.182 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Platelet disorder;Sitosterolemia and Thrombocytopenia 16029460;21576934;28696550 False 3 100;0;0 1.182 False ENSG00000143921 ENSG00000143921 HGNC:13887 ACTB gene ACTB Expert Review Green;Literature Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1 with macrothrombocytopenia;Platelet disorder 30315159;22366783 False 3 100;0;0 1.182 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTN1 gene ACTN1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrothrombocytopenia False 3 100;0;0 1.182 False ENSG00000072110 ENSG00000072110 HGNC:163 ACVRL1 gene ACVRL1 Expert list;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2, 600376;Bleeding disorder 29923633;8640225;30177223;16155196;14684682;18498373;16470787 False 3 100;0;0 1.182 False ENSG00000139567 ENSG00000139567 HGNC:175 ADAMTS13 gene ADAMTS13 Expert Review Green;Research Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 11586351;14512317;12181489;14512317;6433703;15521921 False 3 100;0;0 1.182 False Other - please provide details in the comments ENSG00000160323 ENSG00000160323 HGNC:1366 ANKRD26 gene ANKRD26 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 2 False 3 100;0;0 1.182 False ENSG00000107890 ENSG00000107890 HGNC:29186 ANO6 gene ANO6 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Scott syndrome False 3 100;0;0 1.182 False ENSG00000177119 ENSG00000177119 HGNC:25240 AP3B1 gene AP3B1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert Review Green;Literature Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal ?Hermansky-Pudlak syndrome 10;Platelet disorder;Hermansky-Pudlak syndrome and MR 26744459;27900855 False 3 50;0;50 1.182 False ENSG00000065000 ENSG00000065000 HGNC:568 ARPC1B gene ARPC1B BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718;Combined immune deficiency with or without thrombocytopenia;Inflammatory predisposition 27965109 False 3 100;0;0 1.182 False ENSG00000130429 ENSG00000130429 HGNC:704 BLOC1S3 gene BLOC1S3 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S6 gene BLOC1S6 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000104164 ENSG00000104164 HGNC:8549 CDC42 gene CDC42 Expert list;Expert Review Green;Literature Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Takenouchi-Kosaki syndrome, 616737;Platelet disorder 26386261;26708094;29394990 False 3 100;0;0 1.182 False ENSG00000070831 ENSG00000070831 HGNC:1736 CHST14 gene CHST14 BRIDGE consortium (NIHRBR-RD);Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type False 3 100;0;0 1.182 False ENSG00000169105 ENSG00000169105 HGNC:24464 COL1A1 gene COL1A1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder;Ehlers-Danlos syndrome;Caffey;Osteogenesis imperfecta type 1;Osteogenesis imperfecta type 2;Osteogenesis imperfecta type 3;Osteogenesis imperfecta type 4 28625337;3001313;25845371 False 3 100;0;0 1.182 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL5A1 gene COL5A1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder;Ehlers-Danlos syndrome, classic type 8950675;25845371 False 3 100;0;0 1.182 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder;Ehlers-Danlos syndrome, classic type 9425231 False 3 100;0;0 1.182 False ENSG00000204262 ENSG00000204262 HGNC:2210 CYCS gene CYCS BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 4, OMIM:612004 False 3 100;0;0 1.182 False ENSG00000172115 ENSG00000172115 HGNC:19986 DIAPH1 gene DIAPH1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrothrombocytopenia and sensorineural hearing loss False 3 100;0;0 1.182 False ENSG00000131504 ENSG00000131504 HGNC:2876 DTNBP1 gene DTNBP1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000047579 ENSG00000047579 HGNC:17328 ENG gene ENG Expert list;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1, 187300;Bleeding disorder 9245986;26372311;7894484;16155196;14684682 False 3 100;0;0 1.182 False ENSG00000106991 ENSG00000106991 HGNC:3349 ETV6 gene ETV6 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukaemia False 3 100;0;0 1.182 False ENSG00000139083 ENSG00000139083 HGNC:3495 F10 gene F10 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Factor X deficiency False 3 100;0;0 1.182 False ENSG00000126218 ENSG00000126218 HGNC:3528 F11 gene F11 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XI deficiency False 3 100;0;0 1.182 False ENSG00000088926 ENSG00000088926 HGNC:3529 F12 gene F12 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, type III, OMIM:610618;Factor XII deficiency, OMIM:234000 2882793 False 3 100;0;0 1.182 False ENSG00000131187 ENSG00000131187 HGNC:3530 F13A1 gene F13A1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XIIIA deficiency, OMIM:613225 False 3 100;0;0 1.182 False ENSG00000124491 ENSG00000124491 HGNC:3531 F13B gene F13B BRIDGE Study Tier 1 Gene;Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XIIIB deficiency, OMIM:613235 False 3 100;0;0 1.182 False ENSG00000143278 ENSG00000143278 HGNC:3534 F2 gene F2 BRIDGE Study Tier 1 Gene;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Prothrombin deficiency;Thrombophilia Due To Thrombin Defect;Dysprothrombinemia 613679; Hypoprothrombinemia 613679; Thrombophilia due to thrombin defect 188050;Prothrombin-Related Thrombophilia False 3 100;0;0 1.182 False ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 BRIDGE Study Tier 1 Gene;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor V deficiency;Thrombophilia, susceptibility to, due to factor V Leiden 188055; Thrombophilia due to activated protein C resistance 188055; Factor V Cambridge Thrombophilia; Factor V Leiden Thrombophilia; Factor V R2 Mutation Thrombophilia;Thrombophilia Due To Activated Protein C Resistance False 3 100;0;0 1.182 False ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency False 3 100;0;0 1.182 False ENSG00000057593 ENSG00000057593 HGNC:3544 F8 gene F8 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia A False 3 100;0;0 1.182 False ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 BRIDGE Study Tier 1 Gene;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia B;Thrombophilia, X-linked, due to factor IX defect 300807 False 3 100;0;0 1.182 False ENSG00000101981 ENSG00000101981 HGNC:3551 FERMT3 gene FERMT3 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte integrin adhesion deficiency, type III False 3 100;0;0 1.182 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA BRIDGE Study Tier 1 Gene;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrinogen deficiency;Hypodysfibrinogenemia,congenital,616004; Dysfibrinogenemia,congenital,616004;thrombosis; Fibrinogen Dusart; dysfibrinogenemia associated with recurrent thrombosis; thrombophilia; prolonged thrombin clotting; Fibrinogen Caracas II False 3 100;0;0 1.182 False ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB BRIDGE Study Tier 1 Gene;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Fibrinogen deficiency;Dysfibrinogenemia,congenital,616004;dysbetafibrinogenemia with thrombosis; Thrombophilia in association with congenital dysfibrinogenemia False 3 100;0;0 1.182 False ENSG00000171564 ENSG00000171564 HGNC:3662 FGG gene FGG BRIDGE Study Tier 1 Gene;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Fibrinogen deficiency;Dysfibrinogenemia,congenital,616004;Dysfibrinogenemia, congenita; Hypodysfibrinogenemia False 3 100;0;0 1.182 False ENSG00000171557 ENSG00000171557 HGNC:3694 FLI1 gene FLI1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paris-Trousseau thrombocytopenia and Jacobson syndrome (BIALLELIC, autosomal or pseudoautosomal);Bleeding disorder, platelet-type, 21;617443;BDPLT21;BDPLT21, Storage Pool Disorder and Bleeding (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown);BDPLT21, Paris Trousseau like (BIALLELIC, autosomal or pseudoautosomal);Bleeding disorder, platelet-type, 21 24100448;26316623;28255014 False 3 100;0;0 1.182 False ENSG00000151702 ENSG00000151702 HGNC:3749 FLNA gene FLNA BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular, 1, OMIM:300049;Macrothrombocytopenia 16684786;21960593;29449050;32299270;21652675;30602618;31471375 False 3 100;0;0 1.182 False ENSG00000196924 ENSG00000196924 HGNC:3754 FYB1 gene FYB1 Expert Review Green;Literature Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 3, 273900;Platelet disorder;Microthrombocytopenia 3 25516138;25876182 False 3 100;0;0 1.182 False ENSG00000082074 ENSG00000082074 HGNC:4036 GATA1 gene GATA1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked thrombocytopenia with dyserythropoiesis False 3 100;0;0 1.182 False ENSG00000102145 ENSG00000102145 HGNC:4170 GBA gene GBA Expert list;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease;Gaucher disease, perinatal lethal, 608013;Gaucher disease, type I, 230800;Gaucher disease, type II,230800;Gaucher disease, type III, 230800;Gaucher disease, type IIIC, 231005 15813845 False 3 50;0;50 1.182 False ENSG00000177628 ENSG00000177628 HGNC:4177 GFI1B gene GFI1B BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gray platelet-like syndrome (GPS);Bleeding disorder, platelet-type, 17 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown);187900;Combined alpha-delta platelet storage pool deficiency (BIALLELIC, autosomal or pseudoautosomal) 28041820;24325358;23927492 False 3 100;0;0 1.182 False ENSG00000165702 ENSG00000165702 HGNC:4238 GGCX gene GGCX BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Multiple coagulation factor deficiency type 3 False 3 100;0;0 1.182 False ENSG00000115486 ENSG00000115486 HGNC:4247 GNE gene GNE BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy associated with thrombocytopenia False 3 100;0;0 1.182 False ENSG00000159921 ENSG00000159921 HGNC:23657 GP1BA gene GP1BA BRIDGE Study Tier 1 Gene;Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type A1 (recessive);231200;Platelet-type von Willebrand disease;Bernard-Soulier syndrome;Bernard-Soulier syndrome (BIALLELIC, autosomal or pseudoautosomal); Platelet-type von Willebrand disease (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) False 3 100;0;0 1.182 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB BRIDGE Study Tier 1 Gene;Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type B, OMIM:231200;Giant platelet disorder, isolated, OMIM:231200;Macrothrombocytopenia 9116284;24934643;28064200;29527674;30609015;33657022;33813986 False 3 100;0;0 1.182 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP6 gene GP6 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 11, OMIM:614201 False 3 100;0;0 1.182 False ENSG00000088053 ENSG00000088053 HGNC:14388 GP9 gene GP9 BRIDGE Study Tier 1 Gene;Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type C;231200;Bernard-Soulier syndrome False 3 100;0;0 1.182 False ENSG00000169704 ENSG00000169704 HGNC:4444 HOXA11 gene HOXA11 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amegakaryocytic thrombocytopenia with radioulnar synostosis False 3 100;0;0 1.182 False ENSG00000005073 ENSG00000005073 HGNC:5101 HPS1 gene HPS1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome False 3 100;0;0 1.182 False ENSG00000166189 ENSG00000166189 HGNC:18817 HRG gene HRG BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Histidine-rich glycoprotein deficiency;Thrombophiliadue to elevated HRG; Thrombophilia due to HRG deficiency;Thrombophilia due to elevated HRG 613116; Thrombophilia due to HRG deficiency 613116 11057869;9414276;29108964 False 3 100;0;0 1.182 False ENSG00000113905 ENSG00000113905 HGNC:5181 IKZF5 gene IKZF5 Expert Review Green;Literature Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 31217188 False 3 100;0;0 1.182 False ENSG00000095574 ENSG00000095574 HGNC:14283 ITGA2B gene ITGA2B BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal);273800;Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown );187800;BDPLT16;Congenital macrothrombocytopenia 2014236;1702098;8282784;8704171;18065693;21454453;9834222 False 3 100;0;0 1.182 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Glanzmann thrombasthenia (BIALLELIC, autosomal or pseudoautosomal);273800;Bleeding disorder, platelet-type, 16, autosomal dominant (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown);187800;BDPLT16;Congenital macrothrombocytopenia 18065693;1371279;1438206;1430225;19336737 False 3 100;0;0 1.182 False ENSG00000259207 ENSG00000259207 HGNC:6156 KDSR gene KDSR BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Platelet disorder;Severe Thrombocytopenia with progression to marrow fibrosis at young age 28774589;28575652 False 3 100;0;0 1.182 False ENSG00000119537 ENSG00000119537 HGNC:4021 KLKB1 gene KLKB1 Expert list;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Fletcher factor (prekallikrein) deficiency, 612423;Fletcher syndrome;Coagulation disorder 17598838;14652634;11344577 False 3 100;0;0 1.182 False ENSG00000164344 ENSG00000164344 HGNC:6371 KNG1 gene KNG1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Coagulaton disorder;High Molecular Weight Kininogen Deficiency 7901207;28445521;28053049 False 3 100;0;0 1.182 False ENSG00000113889 ENSG00000113889 HGNC:6383 LMAN1 gene LMAN1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency False 3 100;0;0 1.182 False ENSG00000074695 ENSG00000074695 HGNC:6631 LYST gene LYST BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome (CHS) False 3 100;0;0 1.182 False ENSG00000143669 ENSG00000143669 HGNC:1968 MCFD2 gene MCFD2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency False 3 100;0;0 1.182 False ENSG00000180398 ENSG00000180398 HGNC:18451 MECOM gene MECOM BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 False 3 100;0;0 1.182 False ENSG00000085276 ENSG00000085276 HGNC:3498 MPIG6B gene MPIG6B Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Platelet disorder;Thrombocytopenia, anemia, and myelofibrosis 27743390;23112346 False 3 100;0;0 1.182 False ENSG00000204420 ENSG00000204420 HGNC:13937 MPL gene MPL BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 False 3 100;0;0 1.182 False ENSG00000117400 ENSG00000117400 HGNC:7217 MYH9 gene MYH9 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown May-Hegglin and other MYH9 disorders False 3 100;0;0 1.182 False ENSG00000100345 ENSG00000100345 HGNC:7579 NBEA gene NBEA BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dense granule abnormality False 3 100;0;0 1.182 False ENSG00000172915 ENSG00000172915 HGNC:7648 NBEAL2 gene NBEAL2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome False 3 100;0;0 1.182 False ENSG00000160796 ENSG00000160796 HGNC:31928 P2RY12 gene P2RY12 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal ADP receptor defect False 3 100;0;0 1.182 False ENSG00000169313 ENSG00000169313 HGNC:18124 PLA2G4A gene PLA2G4A BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Deficiency of phospholipase A2, group IV A False 3 100;0;0 1.182 False ENSG00000116711 ENSG00000116711 HGNC:9035 PLAT gene PLAT BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tissue Plasminogen Activator deficiency;Thrombophilia, familial, due to decreased release of PLAT 612348; Thrombophilia due to decreased release of tissue plasminogen False 3 100;0;0 1.182 False ENSG00000104368 ENSG00000104368 HGNC:9051 PLAU gene PLAU BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Quebec platelet disorder False 3 100;0;0 1.182 False ENSG00000122861 ENSG00000122861 HGNC:9052 PROC gene PROC BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Protein C deficiency;Protein C Deficiency;Thrombophilia due to protein C deficiency, autosomal dominant 176860; Thrombophilia due to protein C deficiency, autosomal recessive 612304;Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thrombophilia Due To Protein C Deficiency, Autosomal Recessive False 3 100;0;0 1.182 False ENSG00000115718 ENSG00000115718 HGNC:9451 PROS1 gene PROS1 BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Protein S deficiency;Thrombophilia Due To Protein S Deficiency, Autosomal Dominant; Thrombophilia Due To Protein S Deficiency, Autosomal Recessive;Thrombophilia due to protein S deficiency, autosomal dominant 612336; Thrombophilia due to protein S deficiency, autosomal recessive 614514;Protein S Deficiency False 3 100;0;0 1.182 False ENSG00000184500 ENSG00000184500 HGNC:9456 PTPN11 gene PTPN11 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder;LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic; Metachondromatosis; Noonan syndrome 11704759;28587547 False 3 100;0;0 1.182 False ENSG00000179295 ENSG00000179295 HGNC:9644 RASGRP2 gene RASGRP2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Platelet-type bleeding disorder 18 False 3 100;0;0 1.182 False ENSG00000068831 ENSG00000068831 HGNC:9879 RBM8A gene RBM8A BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome (TAR) False 3 100;0;0 1.182 False ENSG00000131795 ENSG00000265241 HGNC:9905 RNU4ATAC gene RNU4ATAC BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Roifman syndrome, OMIM:616651;Roifman Syndrome with thrombocytopenia and Primary immunodeficiency 26522830;28623346 False 3 100;0;0 1.182 False ENSG00000264229 ENSG00000264229 HGNC:34016 RUNX1 gene RUNX1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial platelet disorder with predisposition to acute myelogenous leukemia False 3 100;0;0 1.182 False ENSG00000159216 ENSG00000159216 HGNC:10471 SERPINC1 gene SERPINC1 BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Thrombophilia due to antithrombin III deficiency, OMIM:613118 False 3 100;0;0 1.182 False ENSG00000117601 ENSG00000117601 HGNC:775 SERPIND1 gene SERPIND1 BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heparin cofactor 2 deficiency;Thrombophilia due to heparin cofactor II deficiency,612356;Thrombophilia due to heparin cofactor II deficiency 612356 False 3 100;0;0 1.182 False ENSG00000099937 ENSG00000099937 HGNC:4838 SERPINE1 gene SERPINE1 BRIDGE Study Tier 1 Gene;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Plasminogen activator Inhibitor 1 deficiency;Plasminogen Activator Inhibitor-1 Deficiency;Thrombophilia due to increased concentration of plasminogen activator inhibitor; thrombophilia associated with high levels of plasminogen activator inhibitor;Plasminogen activator inhibitor-1 deficiency,613329; Transcription of plasminogen activator inhibitor, modulator of False 3 100;0;0 1.182 False ENSG00000106366 ENSG00000106366 HGNC:8583 SERPINF2 gene SERPINF2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Alpha 2 antiplasmin deficiency False 3 100;0;0 1.182 False ENSG00000167711 ENSG00000167711 HGNC:9075 SLC45A2 gene SLC45A2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism and in some cases with mild bleeding symptoms and platelet dense granule secretion defect False 3 100;0;0 1.182 False ENSG00000164175 ENSG00000164175 HGNC:16472 SLFN14 gene SLFN14 BRIDGE consortium (NIHRBR-RD);Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SLFN14-related thrombocytopenia;Platelet disorder;Bleeding Disorder, platelet-type, 20 26280575;27438527;26769223 False 3 100;0;0 1.182 False ENSG00000236320 ENSG00000236320 HGNC:32689 SMAD4 gene SMAD4 Expert list;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050;Bleeding disorder False 3 100;0;0 1.182 False ENSG00000141646 ENSG00000141646 HGNC:6770 SRC gene SRC Expert Review Green;Other Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia, Bleeding and myelofibrosis;?Thrombocytopenia 6,616937;Platelet disorder 26936507 False 3 100;0;0 1.182 False ENSG00000197122 ENSG00000197122 HGNC:11283 STIM1 gene STIM1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stormorken syndrome 185070 False 3 100;0;0 1.182 False Other - please provide details in the comments ENSG00000167323 ENSG00000167323 HGNC:11386 STXBP2 gene STXBP2 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Familial hemophagocytic lymphohistiocytosis type 5 False 3 100;0;0 1.182 False ENSG00000076944 ENSG00000076944 HGNC:11445 TBXA2R gene TBXA2R BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009 False 3 100;0;0 1.182 False ENSG00000006638 ENSG00000006638 HGNC:11608 TBXAS1 gene TBXAS1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, OMIM:231095;?Thromboxane synthase deficiency, OMIM:614158;Bleeding disorder, platelet-type, 14, OMIM:614158 False 3 100;0;0 1.182 False ENSG00000059377 ENSG00000059377 HGNC:11609 THBD gene THBD BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombomodulin deficiency;Thrombophilia Due To Thrombomodulin Defect;Thrombophilia due to thrombomodulin defect 614486 False 3 100;0;0 1.182 False ENSG00000178726 ENSG00000178726 HGNC:11784 THPO gene THPO BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia and thrombocythemia 1 False 3 100;0;0 1.182 False ENSG00000090534 ENSG00000090534 HGNC:11795 TUBB1 gene TUBB1 BRIDGE consortium (NIHRBR-RD);Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrothrombocytopenia, Beta-tubulin 1 related False 3 100;0;0 1.182 False ENSG00000101162 ENSG00000101162 HGNC:16257 VIPAS39 gene VIPAS39 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome False 3 100;0;0 1.182 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 False 3 100;0;0 1.182 False ENSG00000167397 ENSG00000167397 HGNC:23663 VPS33B gene VPS33B BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2) False 3 100;0;0 1.182 False ENSG00000184056 ENSG00000184056 HGNC:12712 VWF gene VWF BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal von Willebrand factordisorders ;von Willebrand factor type 1; von Willebrand factor type 2A; von Willebrand factor type 2B; von Willebrand factor type 2M; von Willebrand factor type 2N; von Willebrand factor type 3 False 3 100;0;0 1.182 False ENSG00000110799 ENSG00000110799 HGNC:12726 WAS gene WAS BRIDGE Study Tier 1 Gene;Expert Review Green Inherited bleeding disorders Haemostasis disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott-Aldrich syndrome False 3 100;0;0 1.182 False ENSG00000015285 ENSG00000015285 HGNC:12731