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 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Sitosterolemia 2, MIM# 618666" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32546081;23556150 False 3 100;0;0 1.52 True ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Sitosterolemia 1, MIM# 210250" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32546081;23556150 False 3 100;0;0 1.52 True ENSG00000143921 ENSG00000143921 HGNC:13887 ACTA2 gene ACTA2 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 6, MIM# 611788 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000107796 ENSG00000107796 HGNC:130 ACTB gene ACTB Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 30315159 False 3 100;0;0 1.52 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTN1 gene ACTN1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bleeding disorder, platelet-type, 15, MIM# 615193" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 23434115 False 3 100;0;0 1.52 True ENSG00000072110 ENSG00000072110 HGNC:163 ACVRL1 gene ACVRL1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000139567 ENSG00000139567 HGNC:175 ADAMTS13 gene ADAMTS13 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 11586351;30312976 False 3 100;0;0 1.52 True ENSG00000160323 ENSG00000160323 HGNC:1366 ANKRD26 gene ANKRD26 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Thrombocytopaenia 2, MIM# 188000" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 21211618 False 3 100;0;0 1.52 True ENSG00000107890 ENSG00000107890 HGNC:29186 ANO6 gene ANO6 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Scott syndrome, MIM# 262890;MONDO:0009885 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 21107324;11895776;27879994;27634832 False 3 100;0;0 1.52 True ENSG00000177119 ENSG00000177119 HGNC:25240 AP3B1 gene AP3B1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 10024875;11809908;14566336 False 3 100;0;0 1.52 True ENSG00000132842 ENSG00000132842 HGNC:566 ARPC1B gene ARPC1B Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 28368018;27965109;29127144;30254128 False 3 100;0;0 1.52 True ENSG00000130429 ENSG00000130429 HGNC:704 BLOC1S3 gene BLOC1S3 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, MIM# 614077;MONDO:0013560 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 16385460;22709368;32687635 False 3 100;0;0 1.52 True ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S5 gene BLOC1S5 Expert Review Green;Literature Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky Pudlak syndrome type 11, MIM#619172 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 PMID: 32565547 False 3 100;0;0 1.52 True ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Hermansky-pudlak syndrome 9, MIM# 614171" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32245340;33543539;29054114;26575419;22461475;10610180 False 3 50;50;0 1.52 True ENSG00000104164 ENSG00000104164 HGNC:8549 C3 gene C3 Expert Review;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000125730 ENSG00000125730 HGNC:1318 CBS gene CBS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombosis, hyperhomocysteinemic, MIM# 236200;Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 7506602;10338090;7967489 False 3 100;0;0 1.52 True ENSG00000160200 ENSG00000160200 HGNC:1550 CDC42 gene CDC42 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Takenouchi-Kosaki syndrome, MIM#616737 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 29394990 False 3 100;0;0 1.52 True ENSG00000070831 ENSG00000070831 HGNC:1736 CFB gene CFB Expert Review;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000243649 ENSG00000243649 HGNC:1037 CFI gene CFI Expert Review;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Haemolytic uremic syndrome, atypical, susceptibility to, 3}, MIM# 612923" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000205403 ENSG00000205403 HGNC:5394 CHST14 gene CHST14 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000169105 ENSG00000169105 HGNC:24464 COL3A1 gene COL3A1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, vascular type, MIM# 130050 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000168542 ENSG00000168542 HGNC:2201 CYCS gene CYCS Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Thrombocytopenia 4, MIM# 612004" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 24326104;18345000;30051457 False 3 100;0;0 1.52 True ENSG00000172115 ENSG00000172115 HGNC:19986 DIAPH1 gene DIAPH1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 26912466;27808407] False 3 100;0;0 1.52 True ENSG00000131504 ENSG00000131504 HGNC:2876 DTNBP1 gene DTNBP1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7, MIM# 614076;MONDO:0013559 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 12923531;23364359;28259707;30990103 False 3 100;0;0 1.52 True ENSG00000047579 ENSG00000047579 HGNC:17328 ENG gene ENG Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000106991 ENSG00000106991 HGNC:3349 ETV6 gene ETV6 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Thrombocytopaenia 5, MIM# 616216" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 25581430;25807284 False 3 100;0;0 1.52 True ENSG00000139083 ENSG00000139083 HGNC:3495 F10 gene F10 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Factor X deficiency, MIM# 227600;MONDO:0009212 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 2790181;2567188;10746568;12028042 False 3 100;0;0 1.52 True ENSG00000126218 ENSG00000126218 HGNC:3528 F11 gene F11 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XI deficiency, autosomal dominant 612416;Factor XI deficiency, autosomal recessive, MIM#612416 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 18446632;15026311 False 3 100;0;0 1.52 True ENSG00000088926 ENSG00000088926 HGNC:3529 F13A1 gene F13A1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Factor XIIIA deficiency, MIM# 613225;MONDO:0013187 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 1644910;7727776;10027709;33802692;32060721 False 3 100;0;0 1.52 True ENSG00000124491 ENSG00000124491 HGNC:3531 F13B gene F13B Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Factor XIIIB deficiency, MIM#613235 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 20331752;26247044 False 3 100;0;0 1.52 True ENSG00000143278 ENSG00000143278 HGNC:3534 F2 gene F2 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD;{Stroke, ischemic, susceptibility to} 601367 Mu;Dysprothrombinemia 613679 AR;Hypoprothrombinemia 613679 AR;Thrombophilia due to thrombin defect 188050 AD Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 30297698 False 3 100;0;0 1.52 True Other ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Factor V deficiency, MIM# 227400;MONDO:0009210;Thrombophilia due to activated protein C resistance, MIM# 188055;MONDO:0008560;{Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency, MIM# 227500;MONDO:0009211 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 12181036 False 3 100;0;0 1.52 True ENSG00000057593 ENSG00000057593 HGNC:3544 F8 gene F8 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Haemophilia A, MIM# 306700;MONDO:0010602;Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 2986011;3097553 False 3 100;0;0 1.52 True ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia B, MIM# 306900;MONDO:0010604;Thrombophilia, X-linked, due to factor IX defect, MIM# 300807;MONDO:0010432 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 19846852;34015304;33656538 False 3 100;0;0 1.52 True ENSG00000101981 ENSG00000101981 HGNC:3551 FBN1 gene FBN1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM# 154700 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000166147 ENSG00000166147 HGNC:3603 FERMT3 gene FERMT3 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Leukocyte adhesion deficiency, type III, MIM# 612840" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital (MIM#202400) Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 31064749;17295221;19073821;11739173 False 3 100;0;0 1.52 True ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Afibrinogenaemia, congenital, MIM# 202400;Hypofibrinogenaemia, congenital, MIM# 202400;Dysfibrinogenemia, congenital, MIM# 616004 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 12393540;16195396 False 3 100;0;0 1.52 True ENSG00000171564 ENSG00000171564 HGNC:3662 FGG gene FGG Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Afibrinogenaemia, congenital, MIM# 202400;Hypofibrinogenaemia, congenital, MIM# 202400;Dysfibrinogenemia, congenital, MIM# 616004 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 11001902;11001903;3337908 False 3 100;0;0 1.52 True ENSG00000171557 ENSG00000171557 HGNC:3694 FLI1 gene FLI1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Bleeding disorder, platelet-type, 21, MIM# 617443" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 24100448;28255014;26316623 False 3 100;0;0 1.52 True ENSG00000151702 ENSG00000151702 HGNC:3749 FLNA gene FLNA Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Macrothrombocytopaenia Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32299270 False 3 100;0;0 1.52 True ENSG00000196924 ENSG00000196924 HGNC:3754 FYB1 gene FYB1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Thrombocytopenia 3, MIM# 273900" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 25516138;25876182 False 3 100;0;0 1.52 True ENSG00000082074 ENSG00000082074 HGNC:4036 GALE gene GALE Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 12, syndromic, MIM#620776 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 30247636;34159722;36395340 False 3 100;0;0 1.52 True ENSG00000117308 ENSG00000117308 HGNC:4116 GATA1 gene GATA1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000102145 ENSG00000102145 HGNC:4170 GBA gene GBA Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000177628 ENSG00000177628 HGNC:4177 GFI1B gene GFI1B Expert Review Green;Literature Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 17 MIM#187900 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 24325358;23927492;28041820;11825872 False 3 100;0;0 1.52 True ENSG00000165702 ENSG00000165702 HGNC:4238 GGCX gene GGCX Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32785662;30531603;26758921 False 3 100;0;0 1.52 True ENSG00000115486 ENSG00000115486 HGNC:4247 GNE gene GNE Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 12 with or without myopathy, MIM#620757 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 30171045;32505938;29941673;25257349 False 3 100;0;0 1.52 True ENSG00000159921 ENSG00000159921 HGNC:23657 GP1BA gene GP1BA Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS);von Willebrand disease, platelet-type, (MIM#177820), AD (VWD);MONDO:0008332;Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS);MONDO:0007930 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 24934643 False 3 100;0;0 1.52 True ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type B, MIM# 231200;Macrothrombocytopaenia Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 8703016;9116284;10887115;33813986;33657022;33216977;31997307;1730088;11222377 False 3 100;0;0 1.52 True ENSG00000203618 ENSG00000203618 HGNC:4440 GP6 gene GP6 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 11, MIM# 614201;MONDO:0013623 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 19549989;19552682;23815599 False 3 100;0;0 1.52 True ENSG00000088053 ENSG00000088053 HGNC:14388 GP9 gene GP9 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type C, MIM# 231200 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 8049428;33553065;32030720;31484196 False 3 100;0;0 1.52 True ENSG00000169704 ENSG00000169704 HGNC:4444 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM# 203300;MONDO:0008748 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 9497254 False 3 100;0;0 1.52 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3, MIM# 614072;MONDO:0013555 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 11455388;31880485;31621111;30990103 False 3 100;0;0 1.52 True ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM# 614073;MONDO:0013556 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 11836498;12664304 False 3 100;0;0 1.52 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 (MIM#614074) Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 28296950;32725903 False 3 100;0;0 1.52 True ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, MIM# 614075;MONDO:0013558 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 12548288;17041891;19843503 False 3 100;0;0 1.52 True ENSG00000166189 ENSG00000166189 HGNC:18817 HRG gene HRG Expert Review;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombophilia 11 due to HRG deficiency, MIM# 613116 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 8236132;11057869;11057869;29108964 False 3 100;0;0 1.52 True ENSG00000113905 ENSG00000113905 HGNC:5181 IKZF5 gene IKZF5 Expert Review;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia 7, MIM#619130 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 31217188 False 3 100;0;0 1.52 True ENSG00000095574 ENSG00000095574 HGNC:14283 ITGA2B gene ITGA2B Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 16, MIM# 187800;MONDO:000855;Glanzmann thrombasthaenia 1, MIM# 273800 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 1638023;21454453;8282784;16463284 False 3 100;0;0 1.52 True ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bleeding disorder, platelet-type, 24, MIM#619271;MONDO:0008552 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 18065693;19336737;20081061;23253071 False 3 100;0;0 1.52 True ENSG00000259207 ENSG00000259207 HGNC:6156 KDSR gene KDSR Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Erythrokeratodermia variabilis et progressiva 4, MIM# 617526;severe thrombocytopaenia" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 28774589;30467204 False 3 100;0;0 1.52 True ENSG00000119537 ENSG00000119537 HGNC:4021 LMAN1 gene LMAN1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency, MIM# 227300;MONDO:0009206 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 9546392;16304051 False 3 100;0;0 1.52 True ENSG00000074695 ENSG00000074695 HGNC:6631 LOX gene LOX Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 10, MIM# 617168 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 30071989;26838787;30675029 False 3 100;0;0 1.52 True ENSG00000113083 ENSG00000113083 HGNC:6664 LYST gene LYST Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Chediak-Higashi syndrome, MIM# 214500" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000143669 ENSG00000143669 HGNC:1968 MCFD2 gene MCFD2 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of, MIM# 613625;MONDO:0013331 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 12717434;16304051;18391077 False 3 100;0;0 1.52 True ENSG00000180398 ENSG00000180398 HGNC:18451 MECOM gene MECOM Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000085276 ENSG00000085276 HGNC:3498 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lujan-Fryns syndrome, MIM# 309520 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000184634 ENSG00000184634 HGNC:11957 MPI gene MPI Expert Review;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579;MPI-CDG MONDO:0011257 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 100;0;0 1.52 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPIG6B gene MPIG6B Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 31276734;29898956;27743390 False 3 100;0;0 1.52 True ENSG00000204420 ENSG00000204420 HGNC:13937 MPL gene MPL Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Thrombocytopenia, congenital amegakaryocytic, MIM# 604498" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 11133753 False 3 100;0;0 1.52 True ENSG00000117400 ENSG00000117400 HGNC:7217 MYH11 gene MYH11 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4, MIM# 132900 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYH9 gene MYH9 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYLK gene MYLK Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 7, MIM# 613780 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000065534 ENSG00000065534 HGNC:7590 NBEAL2 gene NBEAL2 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Gray platelet syndrome, MIM# 139090" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 21765412;21765411;21765413 False 3 100;0;0 1.52 True ENSG00000160796 ENSG00000160796 HGNC:31928 NOTCH1 gene NOTCH1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 16729972;26820064;16025100;25963545 False 3 100;0;0 1.52 True ENSG00000148400 ENSG00000148400 HGNC:7881 P2RY12 gene P2RY12 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 8, MIM# 609821;MONDO:0012354 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 11196645;12578987;29117459;19237732 False 3 100;0;0 1.52 True ENSG00000169313 ENSG00000169313 HGNC:18124 PLA2G4A gene PLA2G4A Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 18451993;25102815;23268370 False 3 100;0;0 1.52 True ENSG00000116711 ENSG00000116711 HGNC:9035 PLAU gene PLAU Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Quebec platelet disorder, MIM# 601709" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 20007542 False 3 100;0;0 1.52 True ENSG00000122861 ENSG00000122861 HGNC:9052 PRKG1 gene PRKG1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 8, MIM# 615436 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000185532 ENSG00000185532 HGNC:9414 PROC gene PROC Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia 3 due to protein C deficiency MIM#176860;Thrombophilia 3 due to protein C deficiency MIM#612304 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 PMID: 2437584;PMID: 7670104;PMID: 10942114;PMID: 28265398 False 3 100;0;0 1.52 True ENSG00000115718 ENSG00000115718 HGNC:9451 PROS1 gene PROS1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336;Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 PMID: 2521801;PMID: 7545463;PMID: 2231208;PMID: 10063989 False 3 100;0;0 1.52 True ENSG00000184500 ENSG00000184500 HGNC:9456 PTPN11 gene PTPN11 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Noonan syndrome 1, MIM# 163950" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RASGRP2 gene RASGRP2 Expert Review Green;Literature Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Bleeding disorder, platelet-type, 18, MIM# 615888" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 24958846;32609603;32041177;31724816;30849270 False 3 100;0;0 1.52 True ENSG00000068831 ENSG00000068831 HGNC:9879 RBM8A gene RBM8A Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Thrombocytopenia-absent radius syndrome, MIM# 274000" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000131795 ENSG00000265241 HGNC:9905 RUNX1 gene RUNX1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 10508512 False 3 100;0;0 1.52 True ENSG00000159216 ENSG00000159216 HGNC:10471 SERPINC1 gene SERPINC1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Thrombophilia 7 due to antithrombin III deficiency #613118 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 PMID: 14347873;PMID: 36624481;PMID: 28300866 False 3 100;0;0 1.52 True ENSG00000117601 ENSG00000117601 HGNC:775 SERPIND1 gene SERPIND1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown heparin cofactor 2 deficiency, MONDO:0012876;Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 8902986;15337701;31064749;11204559;8562924;29296762;2863444;2647747;17549254;11805133 False 3 50;50;0 1.52 True ENSG00000099937 ENSG00000099937 HGNC:4838 SERPINE1 gene SERPINE1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Plasminogen activator inhibitor-1 deficiency, MIM# 613329 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 9207454;15650551 False 3 100;0;0 1.52 True ENSG00000106366 ENSG00000106366 HGNC:8583 SERPINF2 gene SERPINF2 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alpha-2-plasmin inhibitor deficiency, MIM# 262850 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 2572590;10583218;31441040;31282989;29656168 False 3 100;0;0 1.52 True ENSG00000167711 ENSG00000167711 HGNC:9075 SKI gene SKI Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome, MIM# 182212 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000157933 ENSG00000157933 HGNC:10896 SLC2A10 gene SLC2A10 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome, MIM# 208050 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC37A4 gene SLC37A4 Expert Review Green;Literature;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital disorder of glycosylation;liver dysfunction;coagulation deficiency Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 33964207 False 3 100;0;0 1.52 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLFN14 gene SLFN14 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bleeding disorder, platelet-type, 20, MIM# 616913" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 26280575;26769223 False 3 100;0;0 1.52 True ENSG00000236320 ENSG00000236320 HGNC:32689 SMAD3 gene SMAD3 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050;Thoracic aortic aneurysm Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 30809044 False 3 100;0;0 1.52 True ENSG00000141646 ENSG00000141646 HGNC:6770 SRC gene SRC Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Thrombocytopaenia 6, MIM# 616937" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 31204551;26936507 False 3 100;0;0 1.52 True ENSG00000197122 ENSG00000197122 HGNC:11283 STIM1 gene STIM1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Stormorken syndrome, MIM# 185070" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000167323 ENSG00000167323 HGNC:11386 TBXAS1 gene TBXAS1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Ghosal hematodiaphyseal syndrome, MIM# 231095" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 18264100 False 3 100;0;0 1.52 True ENSG00000059377 ENSG00000059377 HGNC:11609 TGFB2 gene TGFB2 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4, MIM# 614816 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 5, MIM# 615582 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1, MIM# 609192 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2, MIM# 610168 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000163513 ENSG00000163513 HGNC:11773 THBD gene THBD Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bleeding disorder Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32634856;25564403;32935436;25049278;27436851;28267383;10627464 False 3 50;50;0 1.52 True ENSG00000178726 ENSG00000178726 HGNC:11784 THPO gene THPO Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombocythemia 1, MIM# 187950;Thrombocytopenia 9, MIM# 620478;Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 9425899;10583217;32150607;28466964;24085763;28559357;29191945;36226497 False 3 100;0;0 1.52 True ENSG00000090534 ENSG00000090534 HGNC:11795 TNXB gene TNXB Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000168477 ENSG00000168477 HGNC:11976 TPM4 gene TPM4 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bleeding disorder, platelet-type, 25, MIM# 620486 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 28134622;31249973;21153663 False 3 100;0;0 1.52 True ENSG00000167460 ENSG00000167460 HGNC:12013 TUBB1 gene TUBB1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 32757236;31565851;29333906;18849486 False 3 100;0;0 1.52 True ENSG00000101162 ENSG00000101162 HGNC:16257 VIPAS39 gene VIPAS39 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 14765194 False 3 100;0;0 1.52 True ENSG00000167397 ENSG00000167397 HGNC:23663 VPS33B gene VPS33B Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 26399659;16896922 False 3 100;0;0 1.52 True ENSG00000184056 ENSG00000184056 HGNC:12712 VWF gene VWF Expert Review Green;Victorian Clinical Genetics Services Bleeding and Platelet Disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal von Willebrand disease, type 1, MIM#193400;von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554;von Willibrand disease, type 3, MIM#277480 Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000110799 ENSG00000110799 HGNC:12726 WAS gene WAS Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Wiskott-Aldrich syndrome, MIM# 301000;Thrombocytopenia, X-linked, MIM# 313900" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 False 3 100;0;0 1.52 True ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert list;Expert Review Green Bleeding and Platelet Disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Wiskott-Aldrich syndrome 2, MIM# 614493" Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977 27742395;11869681;22231303;14757742;9405671 False 3 100;0;0 1.52 True ENSG00000115935 ENSG00000115935 HGNC:12736