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'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/545/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (05/11/2019).

This panel will continue to be curated. 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 for the GMS panels.

6 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mandy nesbitt (Healthcare Professional)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Michael Mitchell (Guy's & St. Thomas' NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: Other diagnostic lab

  • PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

111 Entities

111 reviewed, 88 green

List Entity Reviews Mode of inheritance Details
111 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
4 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
  • (NO OMIM NUMBER)
  • AD thrombocytopenia
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)
ADAMTS13
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
  • 274150 Thrombotic thrombocytopenic purpura, familial
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
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
  • 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
  • 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Tags
Green Green List (high evidence)
BLOC1S3
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
  • 614077 Hermansky-Pudlak syndrome 8
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)
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
  • 612004 Thrombocytopenia 4
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
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
  • 234000 Factor XII deficiency
  • 234000 Factor XII deficiency, hereditary Angioedema type III
  • 610618 Hereditary Angioedema type III
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
  • 613225 Factor XIII deficiency
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
  • 613235 Factor XIII deficiency
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
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
  • 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)
FYB1
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
  • 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
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
  • 230900 Gaucher disease, type II
  • 231005 Gaucher disease, type IIIC
  • 231000 Gaucher disease, type III
  • 230800 Gaucher disease, type I
Tags
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
  • BSS
  • 231200 BERNARD-SOULIER SYNDROME
  • 231200BERNARD-SOULIER SYNDROME
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
  • 614201 Bleeding disorder, platelet-type, 11
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)
HOXA11
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
  • 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
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)
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
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
  • 612423 Fletcher factor (prekallikrein) deficiency
Tags
Green Green List (high evidence)
KNG1
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
  • 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
  • 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
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
  • 604498 Thrombocytopenia, congenital amegakaryocytic
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)
NBEA
4 reviews
2 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
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)
PRKACG
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
  • 616176BLEEDING DISORDER, PLATELET-TYPE, 19
  • 616176 BLEEDING DISORDER, PLATELET-TYPE, 19
  • BDPLT19
Tags
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
  • 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
  • BDPLT13
  • 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
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
  • 231095 Ghosal hematodiaphyseal syndrome
  • 614158 ?Thromboxane synthase deficiency
  • 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome
Tags
Green Green List (high evidence)
THBD
5 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)
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
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
  • 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2
  • 122700 Warfarin resistance
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)
CHST14
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 601776 Ehlers-Danlos syndrome, musculocontractural type 1
Tags
Amber Amber List (moderate evidence)
COL1A1
2 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)
COL3A1
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 130050 Ehlers-Danlos syndrome, vascular type
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)
FLNA
5 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • (NO OMIM NUMBER)
  • Macrothrombocytopenia
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)
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)
PTGS1
5 reviews
1 green
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
  • BDPLT12
  • 605735 BLEEDING DISORDER, PLATELET-TYPE, 12
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
  • Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome
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)
TNXB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
  • significant bruising/haematomas
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)
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)
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

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