Bleeding and platelet disorders (Version 3.10)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R90 Bleeding and platelet disorders' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R90 Bleeding and platelet disorders'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Panel Activity

14 reviewers

Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Steve Keeney (Central Manchester Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Mandy nesbitt (Healthcare Professional)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Kate Downes (Uni of Cambridge / CUH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Michael Mitchell (Guy's & St. Thomas' NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: Other diagnostic lab
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

116 Entities

116 reviewed, 90 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 116 Entitiess
Green Green List (high evidence)	ABCG5	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 210250 Sitosterolemia & Thrombocytopenia Tags
Green Green List (high evidence)	ABCG8	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 210250 Sitosterolemia & Thrombocytopenia Tags
Green Green List (high evidence)	ACTB	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Phenotypes thrombocytopenia, MONDO:0002049 (AD) Tags
Green Green List (high evidence)	ACTN1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 615193 Bleeding disorder, platelet-type, 15 Tags
Green Green List (high evidence)	ACVRL1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 Tags
Green Green List (high evidence)	ANKRD26	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 188000 Thrombocytopenia 2 Tags
Green Green List (high evidence)	ANO6	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 262890 Scott syndrome Tags
Green Green List (high evidence)	AP3B1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 608233 Hermansky-Pudlak syndrome 2 Tags
Green Green List (high evidence)	AP3D1	7 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 617050 ?Hermansky-Pudlak syndrome 10 Tags
Green Green List (high evidence)	ARPC1B	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718 Tags
Green Green List (high evidence)	BLOC1S3	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Hermansky-Pudlak syndrome 8, 614077 Tags
Green Green List (high evidence)	BLOC1S6	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614171 ?Hermansky-pudlak syndrome 9 Tags
Green Green List (high evidence)	CDC42	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 616737 Takenouchi-Kosaki syndrome Tags
Green Green List (high evidence)	CHST14	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 Tags
Green Green List (high evidence)	COL3A1	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Ehlers-Danlos syndrome, vascular type, 130050 Tags
Green Green List (high evidence)	CYCS	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Thrombocytopenia 4, OMIM:612004 Tags
Green Green List (high evidence)	DIAPH1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes (NO OMIM NUMBER) 124900 Macrothrombocytopenia and hearing loss Macrothrombocytopenia and hearing loss Tags
Green Green List (high evidence)	DTNBP1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614076 Hermansky-Pudlak syndrome 7 Tags
Green Green List (high evidence)	ENG	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 Tags
Green Green List (high evidence)	ETV6	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 616216 Thrombocytopenia 5 Tags
Green Green List (high evidence)	F10	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 227600 Factor X deficiency Tags
Green Green List (high evidence)	F11	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 612416 Factor XI deficiency Tags
Green Green List (high evidence)	F12	9 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Angioedema, hereditary, type III, OMIM:610618 Factor XII deficiency, OMIM:234000 Tags
Green Green List (high evidence)	F13A1	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Factor XIIIA deficiency, OMIM:613225 Tags
Green Green List (high evidence)	F13B	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Factor XIIIB deficiency, OMIM:613235 Tags
Green Green List (high evidence)	F2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613679 Factor II deficiency Tags
Green Green List (high evidence)	F5	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 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 Tags
Green Green List (high evidence)	F7	7 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 227500 Factor VII deficiency Tags
Green Green List (high evidence)	F8	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 306700 Haemophilia A Tags
Green Green List (high evidence)	F9	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 306900 Haemophilia B Tags
Green Green List (high evidence)	FERMT3	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 612840 Leukocyte integrin adhesion deficiency, type III Tags
Green Green List (high evidence)	FGA	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 202400 Afibrinogenemia, congenital 616004 Hypodysfibrinogenemia, congenital 105200 Amyloidosis, familial visceral 616004 Dysfibrinogenemia, congenital Tags
Green Green List (high evidence)	FGB	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 202400 Afibrinogenemia, congenital 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital 616004 Dysfibrinogenemia, congenital 202400 Hypofibrinogenemia, congenital 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital Tags
Green Green List (high evidence)	FGG	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 202400 Afibrinogenemia, congenital 616004 Hypodysfibrinogenemia, congenital 616004 Dysfibrinogenemia, congenital Tags
Green Green List (high evidence)	FLI1	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21 BDPLT21 617443.BLEEDING DISORDER, PLATELET-TYPE, 21 Tags
Green Green List (high evidence)	FLNA	7 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Heterotopia, periventricular, 1, OMIM:300049 Macrothrombocytopenia Tags
Green Green List (high evidence)	FYB1	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 273900 Thrombocytopenia 3 Tags
Green Green List (high evidence)	GATA1	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia Tags
Green Green List (high evidence)	GBA	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 230900 Gaucher disease, type II 231005 Gaucher disease, type IIIC 231000 Gaucher disease, type III 230800 Gaucher disease, type I Tags new-gene-name
Green Green List (high evidence)	GFI1B	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 187900 Bleeding disorder, platelet-type, 17 Tags
Green Green List (high evidence)	GGCX	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 Tags
Green Green List (high evidence)	GNE	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes (NO OMIM NUMBER) Myopathy associated with thrombocytopenia Tags
Green Green List (high evidence)	GP1BA	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes BSS 231200 BERNARD-SOULIER SYNDROME 177820 von Willebrand disease, platelet-type 231200BERNARD-SOULIER SYNDROME Tags
Green Green List (high evidence)	GP1BB	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Bernard-Soulier syndrome, type B, OMIM:231200 Giant platelet disorder, isolated, OMIM:231200 Macrothrombocytopenia Tags
Green Green List (high evidence)	GP6	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Bleeding disorder, platelet-type, 11, OMIM:614201 Tags
Green Green List (high evidence)	GP9	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes BSS 231200 BERNARD-SOULIER SYNDROME 231200BERNARD-SOULIER SYNDROME 231200.BERNARD-SOULIER SYNDROME Tags
Green Green List (high evidence)	HPS1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 203300 Hermansky-Pudlak syndrome 1 Tags
Green Green List (high evidence)	HPS3	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614072 Hermansky-Pudlak syndrome 3 Tags
Green Green List (high evidence)	HPS4	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614073 Hermansky-Pudlak syndrome 4 Tags
Green Green List (high evidence)	HPS5	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614074 Hermansky-Pudlak syndrome 5 Tags
Green Green List (high evidence)	HPS6	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614075 Hermansky-Pudlak syndrome 6 Tags
Green Green List (high evidence)	IKZF5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528). Tags
Green Green List (high evidence)	ITGA2B	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 273800 Glanzmann thrombasthenia 187800 Bleeding disorder, platelet-type, 16, autosomal dominant Tags
Green Green List (high evidence)	ITGB3	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 273800 Glanzmann thrombasthenia 187800 Bleeding disorder, platelet-type, 16, autosomal dominant Tags
Green Green List (high evidence)	KDSR	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes (NO OMIM NUMBER OR DISEASE) Recessive severe thrombocytopenia with progression to marrow fibrosis at young age Tags
Green Green List (high evidence)	KLKB1	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 612423 Fletcher factor (prekallikrein) deficiency Tags
Green Green List (high evidence)	KNG1	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 228960 [High molecular weight kininogen deficiency] 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] [Kininogen deficiency] Tags
Green Green List (high evidence)	LMAN1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 227300 Combined factor V and VIII deficiency Tags
Green Green List (high evidence)	LYST	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH Wessex and West Midlands GLH Phenotypes 214500 Chediak-Higashi syndrome Tags
Green Green List (high evidence)	MCFD2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613625 Factor V and factor VIII, combined deficiency of Tags
Green Green List (high evidence)	MECOM	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 Tags
Green Green List (high evidence)	MPIG6B	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis Tags
Green Green List (high evidence)	MPL	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 Tags
Green Green List (high evidence)	MYH9	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 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 Tags
Green Green List (high evidence)	NBEAL2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 139090, Gray platelet syndrome 139090 Gray platelet syndrome Tags
Green Green List (high evidence)	P2RY12	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 P2RY12 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 Tags
Green Green List (high evidence)	PLA2G4A	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER) Tags
Green Green List (high evidence)	PLAU	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 601709 Quebec platelet disorder Tags
Green Green List (high evidence)	PTGS1	8 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes BDPLT12 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 Tags gene-checked
Green Green List (high evidence)	RASGRP2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 615888 ?Bleeding disorder, platelet-type, 18 Tags
Green Green List (high evidence)	RBM8A	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 274000 Thrombocytopenia-absent radius syndrome Tags
Green Green List (high evidence)	RUNX1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy Tags
Green Green List (high evidence)	SERPINE1	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613329 Plasminogen activator inhibitor-1 deficiency Tags
Green Green List (high evidence)	SERPINF2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 262850 Alpha-2-plasmin inhibitor deficiency Tags
Green Green List (high evidence)	SLFN14	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 616913 Bleeding disorder, platelet-type, 20 Tags
Green Green List (high evidence)	SRC	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 616937 ?Thrombocytopenia 6 Tags
Green Green List (high evidence)	STIM1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 185070 Stormorken syndrome Tags
Green Green List (high evidence)	STXBP2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 Tags
Green Green List (high evidence)	TBXA2R	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009 Tags
Green Green List (high evidence)	TBXAS1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Ghosal hematodiaphyseal syndrome, OMIM:231095 ?Thromboxane synthase deficiency, OMIM:614158 Bleeding disorder, platelet-type, 14, OMIM:614158 Tags
Green Green List (high evidence)	THBD	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes AD bleeding disorder 614486 Thrombophilia due to thrombomodulin defect Tags
Green Green List (high evidence)	THPO	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 187950 Thrombocytopenia and thrombocythemia 1 Tags
Green Green List (high evidence)	TNXB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 significant bruising/haematomas Tags
Green Green List (high evidence)	TPM4	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Tags gene-checked
Green Green List (high evidence)	TUBB1	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related Tags
Green Green List (high evidence)	VIPAS39	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 Tags
Green Green List (high evidence)	VKORC1	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 Warfarin resistance, OMIM:122700 Tags
Green Green List (high evidence)	VPS33B	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 Tags
Green Green List (high evidence)	VWF	5 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N 277480 von Willibrand disease, type 3 193400 von Willebrand disease, type 1 Tags
Green Green List (high evidence)	WAS	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 313900 Thrombocytopenia, X-linked (intermittent) 300299 Neutropenia, severe congenital, X-linked 313900 Thrombocytopenia, X-linked intermittent 301000 Wiskott-Aldrich syndrome Tags
Amber Amber List (moderate evidence)	ADAMTS13	8 reviews 5 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	BLOC1S5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hermansky–Pudlak syndrome 11, OMIM:619172 Hermansky-Pudlak syndrome 11, MONDO:0030903 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	COL1A1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes 114000 Caffey disease 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 Tags
Amber Amber List (moderate evidence)	COL5A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes 130000 Ehlers-Danlos syndrome, classic type, 1 Tags
Amber Amber List (moderate evidence)	COL5A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes 130010 Ehlers-Danlos syndrome, classic type, 2 Tags
Amber Amber List (moderate evidence)	EPHB2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Tags
Amber Amber List (moderate evidence)	F2R	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes Type 1 VWD Tags
Amber Amber List (moderate evidence)	GALE	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) Tags
Amber Amber List (moderate evidence)	HOXA11	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Tags
Amber Amber List (moderate evidence)	MKL1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags new-gene-name
Amber Amber List (moderate evidence)	P2RX1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY Tags
Amber Amber List (moderate evidence)	PTPN11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS North West GLH Wessex and West Midlands GLH Phenotypes 163950 Noonan syndrome 1 Tags
Amber Amber List (moderate evidence)	PTPRJ	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Tags
Amber Amber List (moderate evidence)	RGS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags
Amber Amber List (moderate evidence)	RNU4ATAC	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Roifman syndrome, OMIM:616651 Tags
Amber Amber List (moderate evidence)	SLC45A2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Phenotypes 606574 Albinism, oculocutaneous, type IV Tags
Amber Amber List (moderate evidence)	SMAD4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes hereditary hemorrhagic telangiectasia syndrome Tags
Amber Amber List (moderate evidence)	TRPM7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes macrothrombocytopenia Tags
Amber Amber List (moderate evidence)	UNC13D	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags
Red Red List (low evidence)	APOLD1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes inherited bleeding disorder Tags
Red Red List (low evidence)	ITGA2	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes 614200 ?Glycoprotein Ia deficiency Tags
Red Red List (low evidence)	MAST2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Venous thromboembolism Thrombophilia Tags
Red Red List (low evidence)	NBEA	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Tags
Red Red List (low evidence)	PRKACG	8 reviews 4 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Phenotypes ?Bleeding disorder, platelet-type, 19, OMIM:616176 Platelet-type bleeding disorder 19, MONDO:0014518 Tags
Red Red List (low evidence)	STX11	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS North West GLH Wessex and West Midlands GLH Tags
Red Red List (low evidence)	TLN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes thrombocytopenia, MONDO:0002049 Tags

Major version comments

2023-03-22 16:38 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:30 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-11-05 12:06 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.78) was signed off under NHS Genomic Medicine Service governance on (05/11/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Bleeding and platelet disorders (Version 3.10)

14 reviewers

116 Entities

116 reviewed, 90 green

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