Bleeding and Platelet Disorders (Version 1.52)

Description

This panel was developed and is maintained by VCGS.

It contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.

Panel Activity

24 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Monash Genetics)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Danielle Ariti (University of Melbourne)
Manny Jacobs (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Achchuthan Shanmugasundram (Genomics England)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Lucy Spencer (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Jane Lin (The Alfred Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

135 Entities

135 reviewed, 115 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 135 Entitiess
Green List (high evidence)	ABCG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sitosterolemia 2, MIM# 618666 Tags clinical trial treatable
Green List (high evidence)	ABCG8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sitosterolemia 1, MIM# 210250 Tags
Green List (high evidence)	ACTA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 Tags
Green List (high evidence)	ACTB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green List (high evidence)	ACTN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 15, MIM# 615193 Tags
Green List (high evidence)	ACVRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376 Tags
Green List (high evidence)	ADAMTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150 Tags treatable
Green List (high evidence)	ANKRD26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 2, MIM# 188000 Tags 5'UTR
Green List (high evidence)	ANO6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Scott syndrome, MIM# 262890 MONDO:0009885 Tags
Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags clinical trial treatable
Green List (high evidence)	ARPC1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718 Tags treatable
Green List (high evidence)	BLOC1S3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 8, MIM# 614077 MONDO:0013560 Tags
Green List (high evidence)	BLOC1S5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hermansky–Pudlak syndrome type 11, MIM#619172 Tags
Green List (high evidence)	BLOC1S6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hermansky-pudlak syndrome 9, MIM# 614171 Tags
Green List (high evidence)	C3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 Tags
Green List (high evidence)	CBS	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Thrombosis, hyperhomocysteinemic, MIM# 236200 Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200 Tags
Green List (high evidence)	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Takenouchi-Kosaki syndrome, MIM#616737 Tags
Green List (high evidence)	CFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924 Tags
Green List (high evidence)	CFI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes {Haemolytic uremic syndrome, atypical, susceptibility to, 3}, MIM# 612923 Tags
Green List (high evidence)	CHST14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Tags
Green List (high evidence)	COL3A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Tags
Green List (high evidence)	CYCS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 4, MIM# 612004 Tags
Green List (high evidence)	DIAPH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 Tags
Green List (high evidence)	DTNBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 7, MIM# 614076 MONDO:0013559 Tags
Green List (high evidence)	ENG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300 Tags
Green List (high evidence)	ETV6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 5, MIM# 616216 Tags
Green List (high evidence)	F10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor X deficiency, MIM# 227600 MONDO:0009212 Tags
Green List (high evidence)	F11	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XI deficiency, autosomal dominant 612416 Factor XI deficiency, autosomal recessive, MIM#612416 Tags
Green List (high evidence)	F13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XIIIA deficiency, MIM# 613225 MONDO:0013187 Tags
Green List (high evidence)	F13B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor XIIIB deficiency, MIM#613235 Tags
Green List (high evidence)	F2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {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 Tags 5'UTR
Green List (high evidence)	F5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	F7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor VII deficiency, MIM# 227500 MONDO:0009211 Tags
Green List (high evidence)	F8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophilia A, MIM# 306700 MONDO:0010602 Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071 Tags
Green List (high evidence)	F9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophilia B, MIM# 306900 MONDO:0010604 Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 MONDO:0010432 Tags
Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marfan syndrome, MIM# 154700 Tags
Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukocyte adhesion deficiency, type III, MIM# 612840 Tags
Green List (high evidence)	FGA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenemia, congenital (MIM#202400) Tags
Green List (high evidence)	FGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenaemia, congenital, MIM# 202400 Hypofibrinogenaemia, congenital, MIM# 202400 Dysfibrinogenemia, congenital, MIM# 616004 Tags
Green List (high evidence)	FGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Afibrinogenaemia, congenital, MIM# 202400 Hypofibrinogenaemia, congenital, MIM# 202400 Dysfibrinogenemia, congenital, MIM# 616004 Tags
Green List (high evidence)	FLI1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 21, MIM# 617443 Tags
Green List (high evidence)	FLNA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopaenia Tags
Green List (high evidence)	FYB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 3, MIM# 273900 Tags
Green List (high evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 12, syndromic, MIM#620776 Tags
Green List (high evidence)	GATA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367 Tags
Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Gaucher disease Tags
Green List (high evidence)	GFI1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bleeding disorder, platelet-type, 17 MIM#187900 Tags
Green List (high evidence)	GGCX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450 Tags
Green List (high evidence)	GNE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia 12 with or without myopathy, MIM#620757 Tags
Green List (high evidence)	GP1BA	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	GP1BB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type B, MIM# 231200 Macrothrombocytopaenia Tags
Green List (high evidence)	GP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 11, MIM# 614201 MONDO:0013623 Tags
Green List (high evidence)	GP9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bernard-Soulier syndrome, type C, MIM# 231200 Tags
Green List (high evidence)	HPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748 Tags
Green List (high evidence)	HPS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 3, MIM# 614072 MONDO:0013555 Tags
Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556 Tags
Green List (high evidence)	HPS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 5 (MIM#614074) Tags
Green List (high evidence)	HPS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 MONDO:0013558 Tags
Green List (high evidence)	HRG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Thrombophilia 11 due to HRG deficiency, MIM# 613116 Tags
Green List (high evidence)	IKZF5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Thrombocytopaenia 7, MIM#619130 Tags
Green List (high evidence)	ITGA2B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 16, MIM# 187800 MONDO:000855 Glanzmann thrombasthaenia 1, MIM# 273800 Tags
Green List (high evidence)	ITGB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 24, MIM#619271 MONDO:0008552 Tags
Green List (high evidence)	KDSR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Erythrokeratodermia variabilis et progressiva 4, MIM# 617526 severe thrombocytopaenia Tags
Green List (high evidence)	LMAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined factor V and VIII deficiency, MIM# 227300 MONDO:0009206 Tags
Green List (high evidence)	LOX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 10, MIM# 617168 Tags
Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chediak-Higashi syndrome, MIM# 214500 Tags treatable
Green List (high evidence)	MCFD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Factor V and factor VIII, combined deficiency of, MIM# 613625 MONDO:0013331 Tags
Green List (high evidence)	MECOM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738 Tags
Green List (high evidence)	MED12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Tags
Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Green List (high evidence)	MPIG6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Tags
Green List (high evidence)	MPL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 Tags
Green List (high evidence)	MYH11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 4, MIM# 132900 Tags
Green List (high evidence)	MYH9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Green List (high evidence)	MYLK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 7, MIM# 613780 Tags
Green List (high evidence)	NBEAL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Gray platelet syndrome, MIM# 139090 Tags
Green List (high evidence)	NOTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm Tags
Green List (high evidence)	P2RY12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bleeding disorder, platelet-type, 8, MIM# 609821 MONDO:0012354 Tags
Green List (high evidence)	PLA2G4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372 Tags
Green List (high evidence)	PLAU	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Quebec platelet disorder, MIM# 601709 Tags
Green List (high evidence)	PRKG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 8, MIM# 615436 Tags
Green List (high evidence)	PROC	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombophilia 3 due to protein C deficiency MIM#176860 Thrombophilia 3 due to protein C deficiency MIM#612304 Tags
Green List (high evidence)	PROS1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336 Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514 Tags
Green List (high evidence)	PTPN11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Noonan syndrome 1, MIM# 163950 Tags
Green List (high evidence)	RASGRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bleeding disorder, platelet-type, 18, MIM# 615888 Tags
Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags
Green List (high evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Tags
Green List (high evidence)	SERPINC1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombophilia 7 due to antithrombin III deficiency #613118 Tags
Green List (high evidence)	SERPIND1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes heparin cofactor 2 deficiency, MONDO:0012876 Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356 Tags
Green List (high evidence)	SERPINE1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Plasminogen activator inhibitor-1 deficiency, MIM# 613329 Tags
Green List (high evidence)	SERPINF2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alpha-2-plasmin inhibitor deficiency, MIM# 262850 Tags
Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212 Tags
Green List (high evidence)	SLC2A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial tortuosity syndrome, MIM# 208050 Tags
Green List (high evidence)	SLC37A4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation liver dysfunction coagulation deficiency Tags
Green List (high evidence)	SLFN14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 20, MIM# 616913 Tags
Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags
Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050 Thoracic aortic aneurysm Tags
Green List (high evidence)	SRC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocytopaenia 6, MIM# 616937 Tags
Green List (high evidence)	STIM1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Stormorken syndrome, MIM# 185070 Tags
Green List (high evidence)	TBXAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ghosal hematodiaphyseal syndrome, MIM# 231095 Tags
Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 5, MIM# 615582 Tags
Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 1, MIM# 609192 Tags
Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags
Green List (high evidence)	THBD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder Tags
Green List (high evidence)	THPO	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thrombocythemia 1, MIM# 187950 Thrombocytopenia 9, MIM# 620478 Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Tags
Green List (high evidence)	TNXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408 Tags
Green List (high evidence)	TPM4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder, platelet-type, 25, MIM# 620486 Tags
Green List (high evidence)	TUBB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112 Tags
Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404 Tags
Green List (high evidence)	VKORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473 Tags
Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085 Tags
Green List (high evidence)	VWF	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Wiskott-Aldrich syndrome, MIM# 301000 Thrombocytopenia, X-linked, MIM# 313900 Tags
Green List (high evidence)	WIPF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Wiskott-Aldrich syndrome 2, MIM# 614493 Tags
Amber List (moderate evidence)	APOLD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bleeding disorder, vascular-type (MIM#620715) Tags
Amber List (moderate evidence)	COL5A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, MIM# 130000 Tags
Amber List (moderate evidence)	COL5A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, classic type, 2, MIM# 130010 Tags
Amber List (moderate evidence)	EPHB2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bleeding disorder, platelet-type, 22, MIM# 618462 Tags
Amber List (moderate evidence)	FOXE3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349 Tags
Amber List (moderate evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432 Tags
Amber List (moderate evidence)	KLKB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Fletcher factor (prekallikrein) deficiency, MIM# 612423 Tags
Amber List (moderate evidence)	MAT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thoracic aortic aneurysm Tags
Amber List (moderate evidence)	MFAP5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Aortic aneurysm, familial thoracic MIM# 616166 MONDO:0014514 Tags
Amber List (moderate evidence)	PLG	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Plasminogen deficiency, type I Dysplasminogenemia MIM#217090 Tags
Amber List (moderate evidence)	PTGS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Platelet dysfunction bleeding Tags
Amber List (moderate evidence)	PTPRJ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Thrombocytopenia 10, MIM# 620484 Tags
Amber List (moderate evidence)	TBXA2R	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009 Tags
Amber List (moderate evidence)	TUBA8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840 Tags
Red List (low evidence)	FBN2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital 121050 Macular degeneration, early-onset 616118 Tags
Red List (low evidence)	KIF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Braddock-Carey syndrome 2 - MIM#619981 Tags
Red List (low evidence)	MAST2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Thrombophilia venous thrombosis Tags
Red List (low evidence)	PIGA	1 review 1 red	Unknown	Sources Expert list Expert Review Red Phenotypes Paroxysmal nocturnal hemoglobinuria, somatic, MIM# 300818 Tags somatic
Red List (low evidence)	PRKACG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Bleeding disorder, platelet-type, 19, MIM# 616176 Tags
Red List (low evidence)	TLN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes thrombocytopenia, MONDO:0002049, TLN1-related Tags

Major version comments

2021-06-04 02:45 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Bleeding and Platelet Disorders (Version 1.52)

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