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 Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 210250 Sitosterolemia & Thrombocytopenia 30270055;24623560;27291889 False 3 80;20;0 4.6 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 210250 Sitosterolemia & Thrombocytopenia 24166850;27291889 False 3 40;60;0 4.6 False ENSG00000143921 ENSG00000143921 HGNC:13887 ACTB gene ACTB Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal thrombocytopenia, MONDO:0002049 (AD) 30451859 False 3 50;50;0 4.6 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTN1 gene ACTN1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 615193 Bleeding disorder, platelet-type, 15 25361813;23434115;25949529 False 3 80;20;0 4.6 False ENSG00000072110 ENSG00000072110 HGNC:163 ACVRL1 gene ACVRL1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 600376 Telangiectasia, hereditary hemorrhagic, type 2 16752392;25970827;30251589 False 3 80;20;0 4.6 False ENSG00000139567 ENSG00000139567 HGNC:175 ADAMTS13 gene ADAMTS13 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 11586351;12181489;12753286;14512317;15009458;15521921;30792199;32197596;32255295;33014938;33072671 False 3 75;12;12 4.6 False ENSG00000160323 ENSG00000160323 HGNC:1366 ANKRD26 gene ANKRD26 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 188000 Thrombocytopenia 2 21467542;24030261;21211618 False 3 80;20;0 4.6 False ENSG00000107890 ENSG00000107890 HGNC:29186 ANO6 gene ANO6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 262890 Scott syndrome 21511967;21107324;27879994 False 3 80;20;0 4.6 False ENSG00000177119 ENSG00000177119 HGNC:25240 AP3B1 gene AP3B1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 608233 Hermansky-Pudlak syndrome 2 28585318;23403622;26684649 False 3 80;20;0 4.6 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 617050 ?Hermansky-Pudlak syndrome 10 28936583;26744459 False 3 67;17;17 4.6 False ENSG00000065000 ENSG00000065000 HGNC:568 ARPC1B gene ARPC1B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718 29127144;28368018 False 3 80;20;0 4.6 False ENSG00000130429 ENSG00000130429 HGNC:704 BLOC1S3 gene BLOC1S3 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, 614077 16385460;22709368;32687635 False 3 80;20;0 4.6 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S5 gene BLOC1S5 Expert Review Green;Literature;NHS GMS Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Hermansky Pudlak syndrome 11, OMIM:619172;Hermansky-Pudlak syndrome 11, MONDO:0030903 32565547;34685610;34058075 False 3 100;0;0 4.6 False ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614171 ?Hermansky-pudlak syndrome 9 22461475;29054114 False 3 80;20;0 4.6 False ENSG00000104164 ENSG00000104164 HGNC:8549 CDC42 gene CDC42 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 616737 Takenouchi-Kosaki syndrome 26708094;26386261;29394990 False 3 80;20;0 4.6 False ENSG00000070831 ENSG00000070831 HGNC:1736 CHST14 gene CHST14 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, 601776 20533528;26373698;25703627 False 3 60;20;20 4.6 False ENSG00000169105 ENSG00000169105 HGNC:24464 COL3A1 gene COL3A1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, vascular type, OMIM:130050;Polymicrogyria with or without vascular-type EDS, OMIM:618343 22019127;25758994;22143279;30690834 False 3 60;20;20 4.6 False ENSG00000168542 ENSG00000168542 HGNC:2201 CYCS gene CYCS Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 4, OMIM:612004 18345000;27479822;24326104 False 3 80;20;0 4.6 False ENSG00000172115 ENSG00000172115 HGNC:19986 DIAPH1 gene DIAPH1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (NO OMIM NUMBER);124900 Macrothrombocytopenia and hearing loss;Macrothrombocytopenia and hearing loss 28815995;26912466;27707755 False 3 80;20;0 4.6 False ENSG00000131504 ENSG00000131504 HGNC:2876 DTNBP1 gene DTNBP1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614076 Hermansky-Pudlak syndrome 7 12923531;23364359;28259707 False 3 80;20;0 4.6 False ENSG00000047579 ENSG00000047579 HGNC:17328 ENG gene ENG Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 187300 Telangiectasia, hereditary hemorrhagic, type 1 7894484;25970827;30251589 False 3 80;20;0 4.6 False ENSG00000106991 ENSG00000106991 HGNC:3349 ETV6 gene ETV6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 616216 Thrombocytopenia 5 27365488;27663637;28555414 False 3 80;20;0 4.6 False ENSG00000139083 ENSG00000139083 HGNC:3495 F10 gene F10 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 227600 Factor X deficiency 21854511;20331754;9198147 False 3 80;20;0 4.6 False ENSG00000126218 ENSG00000126218 HGNC:3528 F11 gene F11 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 612416 Factor XI deficiency 16835901;24112640;29178608 False 3 80;20;0 4.6 False ENSG00000088926 ENSG00000088926 HGNC:3529 F12 gene F12 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, type III, OMIM:610618;Factor XII deficiency, OMIM:234000 9354665;20386432;27003566 False 3 71;29;0 4.6 False ENSG00000131187 ENSG00000131187 HGNC:3530 F13A1 gene F13A1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XIIIA deficiency, OMIM:613225 26852661;28520207;8555083 False 3 80;20;0 4.6 False ENSG00000124491 ENSG00000124491 HGNC:3531 F13B gene F13B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XIIIB deficiency, OMIM:613235 11313256;8324218;20331752 False 3 80;20;0 4.6 False ENSG00000143278 ENSG00000143278 HGNC:3534 F2 gene F2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 613679 Factor II deficiency False 3 80;20;0 4.6 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 Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden};227400 Factor V deficiency;188055 {Thrombophilia, susceptibility to, due to factor V Leiden};188055 Thrombophilia due to activated protein C resistance 19861681;20546033;19486170 False 3 80;20;0 4.6 False ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 227500 Factor VII deficiency 11129332;21206266;10862079 False 3 80;20;0 4.6 False ENSG00000057593 ENSG00000057593 HGNC:3544 F8 gene F8 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 306700 Haemophilia A 22103590;11857744;18217193 False 3 80;20;0 4.6 False ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 306900 Haemophilia B 7937052;22103590;15921378 False 3 80;20;0 4.6 False ENSG00000101981 ENSG00000101981 HGNC:3551 FERMT3 gene FERMT3 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 612840 Leukocyte integrin adhesion deficiency, type III 20357244;20216991 False 3 80;20;0 4.6 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 202400 Afibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital;105200 Amyloidosis, familial visceral;616004 Dysfibrinogenemia, congenital 18771425;23061815;25427968 False 3 80;20;0 4.6 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 Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 202400 Afibrinogenemia, congenital;202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital;202400 Hypofibrinogenemia, congenital;202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital 1565641;12161363;19404555 False 3 80;20;0 4.6 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 Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 202400 Afibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital 17295221;30418131;30349899 False 3 80;20;0 4.6 False ENSG00000171557 ENSG00000171557 HGNC:3694 FLI1 gene FLI1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 617443 BLEEDING DISORDER, PLATELET-TYPE, 21;BDPLT21;617443.BLEEDING DISORDER, PLATELET-TYPE, 21 26316623;24100448;28255014 False 3 80;20;0 4.6 False ENSG00000151702 ENSG00000151702 HGNC:3749 FLNA gene FLNA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology 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 67;33;0 4.6 False ENSG00000196924 ENSG00000196924 HGNC:3754 FYB1 gene FYB1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 273900 Thrombocytopenia 3 25516138;25876182 False 3 67;33;0 4.6 False ENSG00000082074 ENSG00000082074 HGNC:4036 GATA1 gene GATA1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 10700180;23704091;16103636 False 3 80;20;0 4.6 False ENSG00000102145 ENSG00000102145 HGNC:4170 GBA gene GBA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 230900 Gaucher disease, type II;231005 Gaucher disease, type IIIC;231000 Gaucher disease, type III;230800 Gaucher disease, type I 27265538;27816428;20575041 False 3 80;20;0 4.6 False ENSG00000177628 ENSG00000177628 HGNC:4177 GFI1B gene GFI1B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 187900 Bleeding disorder, platelet-type, 17 23927492;28041820 False 3 80;20;0 4.6 False ENSG00000165702 ENSG00000165702 HGNC:4238 GGCX gene GGCX Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 25151188;28679738;21435120 False 3 80;20;0 4.6 False ENSG00000115486 ENSG00000115486 HGNC:4247 GNE gene GNE Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal (NO OMIM NUMBER);Myopathy associated with thrombocytopenia 27479822;29941673;30171045 False 3 80;20;0 4.6 False ENSG00000159921 ENSG00000159921 HGNC:23657 GP1BA gene GP1BA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal BSS;231200 BERNARD-SOULIER SYNDROME;177820 von Willebrand disease, platelet-type;231200BERNARD-SOULIER SYNDROME 24934643;9616133;21357716 False 3 80;20;0 4.6 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology 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 80;20;0 4.6 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP6 gene GP6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 11, OMIM:614201 19552682;19549989 False 3 80;20;0 4.6 False ENSG00000088053 ENSG00000088053 HGNC:14388 GP9 gene GP9 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal BSS;231200 BERNARD-SOULIER SYNDROME;231200BERNARD-SOULIER SYNDROME;231200.BERNARD-SOULIER SYNDROME 24934643;9616133;21357716 False 3 80;20;0 4.6 False ENSG00000169704 ENSG00000169704 HGNC:4444 HPS1 gene HPS1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 203300 Hermansky-Pudlak syndrome 1 27514596;29345414;12442288;25707719 False 3 80;20;0 4.6 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614072 Hermansky-Pudlak syndrome 3 27514596;11590544;28284561 False 3 80;20;0 4.6 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614073 Hermansky-Pudlak syndrome 4 27514596;12664304;29108692 False 3 80;20;0 4.6 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614074 Hermansky-Pudlak syndrome 5 27514596;28296950;28640947 False 3 80;20;0 4.6 False ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614075 Hermansky-Pudlak syndrome 6 27514596;27593200;19843503 False 3 80;20;0 4.6 False ENSG00000166189 ENSG00000166189 HGNC:18817 IKZF5 gene IKZF5 Expert Review;Expert Review Green;Literature Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528). 31217188;32419556 False 3 100;0;0 4.6 False Other ENSG00000095574 ENSG00000095574 HGNC:14283 ITGA2B gene ITGA2B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 273800 Glanzmann thrombasthenia;187800 Bleeding disorder, platelet-type, 16, autosomal dominant 29675921;25728920;24498605 False 3 80;20;0 4.6 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 273800 Glanzmann thrombasthenia;187800 Bleeding disorder, platelet-type, 16, autosomal dominant 19691478;25728920;20020534 False 3 80;20;0 4.6 False ENSG00000259207 ENSG00000259207 HGNC:6156 KDSR gene KDSR Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal (NO OMIM NUMBER OR DISEASE);Recessive severe thrombocytopenia with progression to marrow fibrosis at young age 30467204 False 3 60;40;0 4.6 False ENSG00000119537 ENSG00000119537 HGNC:4021 KLKB1 gene KLKB1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 612423 Fletcher factor (prekallikrein) deficiency 17598838;14652634;20301226 False 3 67;17;17 4.6 False ENSG00000164344 ENSG00000164344 HGNC:6371 KNG1 gene KNG1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 228960 [High molecular weight kininogen deficiency];228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency];[Kininogen deficiency] 12576314;24492696;7901207 False 3 67;17;17 4.6 False ENSG00000113889 ENSG00000113889 HGNC:6383 LMAN1 gene LMAN1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 227300 Combined factor V and VIII deficiency 10090934;10090935;16304051 False 3 80;20;0 4.6 False ENSG00000074695 ENSG00000074695 HGNC:6631 LYST gene LYST Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 214500 Chediak-Higashi syndrome 9215680;11857544;21209802 False 3 75;25;0 4.6 False ENSG00000143669 ENSG00000143669 HGNC:1968 MCFD2 gene MCFD2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 613625 Factor V and factor VIII, combined deficiency of 20004600;12717434;16304051 False 3 80;20;0 4.6 False ENSG00000180398 ENSG00000180398 HGNC:18451 MECOM gene MECOM Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 26581901;29540340;29519864 False 3 80;20;0 4.6 False ENSG00000085276 ENSG00000085276 HGNC:3498 MPIG6B gene MPIG6B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 617441 ?Thrombocytopenia, anemia, and myelofibrosis 29898956;27743390 False 3 80;20;0 4.6 False ENSG00000204420 ENSG00000204420 HGNC:13937 MPL gene MPL Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 16470591;11133753;22180433 False 3 80;20;0 4.6 False ENSG00000117400 ENSG00000117400 HGNC:7217 MYH9 gene MYH9 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 28368695;29679756;24186861 False 3 80;20;0 4.6 False ENSG00000100345 ENSG00000100345 HGNC:7579 NBEAL2 gene NBEAL2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 139090, Gray platelet syndrome;139090 Gray platelet syndrome 21765412;27870194;21765411 False 3 80;20;0 4.6 False ENSG00000160796 ENSG00000160796 HGNC:31928 P2RY12 gene P2RY12 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12;P2RY12;600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 11196645;609821;20966167 False 3 80;20;0 4.6 False ENSG00000169313 ENSG00000169313 HGNC:18124 PLA2G4A gene PLA2G4A Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Phospholipase A2, group IV A, deficiency of;(NO OMIM NUMBER) 21247147;18451993;23268370 False 3 80;20;0 4.6 False ENSG00000116711 ENSG00000116711 HGNC:9035 PLAU gene PLAU Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 601709 Quebec platelet disorder 28301587;20007542 False 3 80;20;0 4.6 False ENSG00000122861 ENSG00000122861 HGNC:9052 PTGS1 gene PTGS1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal BDPLT12;605735 BLEEDING DISORDER, PLATELET-TYPE, 12 11442478;27629384;8562397;28748566;6103258;32299908;24008976;33326144;32584621 False 3 17;83;0 4.6 False ENSG00000095303 ENSG00000095303 HGNC:9604 RASGRP2 gene RASGRP2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 615888 ?Bleeding disorder, platelet-type, 18 28637664;27235135;28762304 False 3 80;20;0 4.6 False ENSG00000068831 ENSG00000068831 HGNC:9879 RBM8A gene RBM8A Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 274000 Thrombocytopenia-absent radius syndrome 22366785;24053387 False 3 80;20;0 4.6 False ENSG00000131795 ENSG00000265241 HGNC:9905 RUNX1 gene RUNX1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 601399 Platelet disorder, familial, with associated myeloid malignancy 28240786;24100448;10508512 False 3 80;20;0 4.6 False ENSG00000159216 ENSG00000159216 HGNC:10471 SERPINE1 gene SERPINE1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 613329 Plasminogen activator inhibitor-1 deficiency False 3 80;20;0 4.6 False ENSG00000106366 ENSG00000106366 HGNC:8583 SERPINF2 gene SERPINF2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 262850 Alpha-2-plasmin inhibitor deficiency 14999928;29656168;17961166 False 3 80;20;0 4.6 False ENSG00000167711 ENSG00000167711 HGNC:9075 SLFN14 gene SLFN14 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 616913 Bleeding disorder, platelet-type, 20 26769223;26280575 False 3 80;20;0 4.6 False ENSG00000236320 ENSG00000236320 HGNC:32689 SRC gene SRC Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 616937 ?Thrombocytopenia 6 26936507 False 3 80;20;0 4.6 False ENSG00000197122 ENSG00000197122 HGNC:11283 STIM1 gene STIM1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 185070 Stormorken syndrome 19420366;27876257 False 3 80;20;0 4.6 False ENSG00000167323 ENSG00000167323 HGNC:11386 STXBP2 gene STXBP2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 613101 Hemophagocytic lymphohistiocytosis, familial, 5 20798128;25564401;19804848 False 3 80;20;0 4.6 False ENSG00000076944 ENSG00000076944 HGNC:11445 TBXA2R gene TBXA2R Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology 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 22517902;8972034;24452735;30089223;19828703;8428006 False 3 80;20;0 4.6 False ENSG00000006638 ENSG00000006638 HGNC:11608 TBXAS1 gene TBXAS1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, OMIM:231095;?Thromboxane synthase deficiency, OMIM:614158;Bleeding disorder, platelet-type, 14, OMIM:614158 18264100;28868793 False 3 80;20;0 4.6 False ENSG00000059377 ENSG00000059377 HGNC:11609 THBD gene THBD Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AD bleeding disorder;614486 Thrombophilia due to thrombomodulin defect 25564403 False 3 33;67;0 4.6 False ENSG00000178726 ENSG00000178726 HGNC:11784 THPO gene THPO Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 187950 Thrombocytopenia and thrombocythemia 1 28466964;28559357;29191945 False 3 80;20;0 4.6 False ENSG00000090534 ENSG00000090534 HGNC:11795 TNXB gene TNXB Expert Review;Expert Review Green Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;significant bruising/haematomas 28306229;28306225;11642233;15733269;23768946;27582382 False 3 50;50;0 4.6 False ENSG00000168477 ENSG00000168477 HGNC:11976 TPM4 gene TPM4 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder, platelet-type, 25, OMIM:620486 27479822;28134622 False 3 80;20;0 4.6 False ENSG00000167460 ENSG00000167460 HGNC:12013 TUBB1 gene TUBB1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related 27479822;27905099;24344610 False 3 80;20;0 4.6 False ENSG00000101162 ENSG00000101162 HGNC:16257 VIPAS39 gene VIPAS39 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome 22753090;28039895;20190753 False 3 80;20;0 4.6 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology 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;Warfarin resistance, OMIM:122700 26287237;14765194;20946155 False 3 80;20;0 4.6 False ENSG00000167397 ENSG00000167397 HGNC:23663 VPS33B gene VPS33B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 15052268;16896922;22753090 False 3 80;20;0 4.6 False ENSG00000184056 ENSG00000184056 HGNC:12712 VWF gene VWF Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N;277480 von Willibrand disease, type 3;193400 von Willebrand disease, type 1 16985174;23407766;28971901 False 3 80;20;0 4.6 False ENSG00000110799 ENSG00000110799 HGNC:12726 WAS gene WAS Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 313900 Thrombocytopenia, X-linked (intermittent);300299 Neutropenia, severe congenital, X-linked;313900 Thrombocytopenia, X-linked intermittent;301000 Wiskott-Aldrich syndrome 20173115;15284122;17400488 False 3 80;20;0 4.6 False ENSG00000015285 ENSG00000015285 HGNC:12731 COL1A1 gene COL1A1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 114000 Caffey disease;130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 27011056 False 2 33;67;0 4.6 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL5A1 gene COL5A1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 130000 Ehlers-Danlos syndrome, classic type, 1 22696272;28485813;23587214 False 2 50;50;0 4.6 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 130010 Ehlers-Danlos syndrome, classic type, 2 15580559;:28485813;25987251 False 2 50;50;0 4.6 False ENSG00000204262 ENSG00000204262 HGNC:2210 EPHB2 gene EPHB2 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 30213874 False 2 25;75;0 4.6 False ENSG00000133216 ENSG00000133216 HGNC:3393 F2R gene F2R Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Type 1 VWD 26630678 False 2 40;60;0 4.6 False ENSG00000181104 ENSG00000181104 HGNC:3537 GALE gene GALE Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) 30247636 False 2 33;67;0 4.6 False ENSG00000117308 ENSG00000117308 HGNC:4116 HOXA11 gene HOXA11 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 16765069;11101832 False 2 67;33;0 4.6 False ENSG00000005073 ENSG00000005073 HGNC:5101 MKL1 gene MKL1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 27479822 False 2 33;67;0 4.6 False ENSG00000196588 ENSG00000196588 HGNC:14334 P2RX1 gene P2RX1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY 10816552 False 2 33;67;0 4.6 False ENSG00000108405 ENSG00000108405 HGNC:8533 PTPN11 gene PTPN11 Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 163950 Noonan syndrome 1 none submitted False 2 67;33;0 4.6 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPRJ gene PTPRJ Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 30591527 False 2 25;75;0 4.6 False ENSG00000149177 ENSG00000149177 HGNC:9673 RAP1B gene RAP1B Expert Review;Expert Review Amber Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654;thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000 32627184;35451551;37850357 False 2 100;0;0 4.6 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127314 ENSG00000127314 HGNC:9857 RGS2 gene RGS2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 20403096;28784619 False 2 33;67;0 4.6 False ENSG00000116741 ENSG00000116741 HGNC:9998 RNU4ATAC gene RNU4ATAC Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal Roifman syndrome, OMIM:616651 none submitted False 2 50;50;0 4.6 False ENSG00000264229 ENSG00000264229 HGNC:34016 SLC45A2 gene SLC45A2 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 606574 Albinism, oculocutaneous, type IV none submitted False 2 25;75;0 4.6 False ENSG00000164175 ENSG00000164175 HGNC:16472 SMAD4 gene SMAD4 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary hemorrhagic telangiectasia syndrome 25269631;24001356;30251589;16613914 False 2 33;33;33 4.6 False ENSG00000141646 ENSG00000141646 HGNC:6770 TRPM7 gene TRPM7 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown macrothrombocytopenia 27020697 False 2 33;67;0 4.6 False ENSG00000092439 ENSG00000092439 HGNC:17994 UNC13D gene UNC13D Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 28399723;28748566 False 2 33;67;0 4.6 False ENSG00000092929 ENSG00000092929 HGNC:23147 APOLD1 gene APOLD1 Literature Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown inherited bleeding disorder 35638551 False 1 0;50;50 4.6 False ENSG00000178878 ENSG00000178878 HGNC:25268 ITGA2 gene ITGA2 Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 614200 ?Glycoprotein Ia deficiency 10590055 False 1 40;40;20 4.6 False ENSG00000164171 ENSG00000164171 HGNC:6137 MAST2 gene MAST2 Expert Review Red;Literature Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venous thromboembolism;Thrombophilia 33465109 False 1 0;0;100 4.6 False ENSG00000086015 ENSG00000086015 HGNC:19035 NBEA gene NBEA Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 28748566 False 1 40;40;20 4.6 False ENSG00000172915 ENSG00000172915 HGNC:7648 PRKACG gene PRKACG Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal ?Bleeding disorder, platelet-type, 19, OMIM:616176;Platelet-type bleeding disorder 19, MONDO:0014518 25061177;30819905 False 1 57;14;29 4.6 False ENSG00000165059 ENSG00000165059 HGNC:9382 STX11 gene STX11 Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH Bleeding and platelet disorders Haematology BIALLELIC, autosomal or pseudoautosomal 28399723 False 1 25;50;25 4.6 False ENSG00000135604 ENSG00000135604 HGNC:11429 TLN1 gene TLN1 Literature Bleeding and platelet disorders Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown thrombocytopenia, MONDO:0002049 35861643 False 1 0;0;100 4.6 False ENSG00000137076 ENSG00000137076 HGNC:11845