Description
This panel is used for clinical indication 'R97 Thrombophilia with a likely monogenic cause' 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 'R97 Thrombophilia with a likely monogenic cause'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/516/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (03/03/2020).

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 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.

8 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

  • 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

  • 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

21 Entities

21 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
ADAMTS13
7 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
  • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Tags
  • Q2_21_MOI
Green Green List (high evidence)
F2
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
  • 188050 Thrombophilia due to thrombin defect
  • 613679 Hypoprothrombinemia
  • 613679 Dysprothrombinemia
  • 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, susceptibility to, due to factor V Leiden}
  • 188055 Thrombophilia due to activated protein C resistance
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
  • 105200 Amyloidosis, familial visceral
  • 616004 Dysfibrinogenemia, congenital
  • 616004 Hypodysfibrinogenemia, 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
  • Afibrinogenemia, congenital, OMIM:202400
  • Hypofibrinogenemia, congenital, OMIM:202400
  • Dysfibrinogenemia, congenital, OMIM:616004
  • Thrombophilia, MONDO:0002305
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
  • Afibrinogenemia, congenital, OMIM:202400
  • Hypofibrinogenemia, congenital, OMIM:202400
  • Dysfibrinogenemia, congenital, OMIM:616004
  • Hypodysfibrinogenemia, OMIM:616004
  • Thrombophilia, MONDO:0002305
Tags
Green Green List (high evidence)
HRG
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
  • Thrombophilia due to HRG deficiency, OMIM:613116
Tags
Green Green List (high evidence)
PIGA
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
  • 300818 Paroxysmal nocturnal hemoglobinuria, somatic
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
PLG
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
  • 217090 Plasminogen deficiency, type I
Tags
Green Green List (high evidence)
PROC
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
  • Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304
  • Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
Tags
Green Green List (high evidence)
PROS1
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
  • Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336
  • Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
Tags
Green Green List (high evidence)
SERPINC1
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
  • Thrombophilia due to antithrombin III deficiency, OMIM:613118
Tags
Green Green List (high evidence)
SERPIND1
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
  • Thrombophilia due to heparin cofactor II deficiency, OMIM:612356
Tags
Green Green List (high evidence)
SERPINE1
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
  • 613329 Plasminogen activator inhibitor-1 deficiency
Tags
Green Green List (high evidence)
THBD
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
  • Thrombophilia due to thrombomodulin defect, OMIM:614486
Tags
Amber Amber List (moderate evidence)
F3
3 reviews
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Tissue factor deficiency (Factor III)
Tags
Amber Amber List (moderate evidence)
PLAT
5 reviews
2 green 1 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
  • Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348
Tags
Amber Amber List (moderate evidence)
PROCR
5 reviews
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • ?Thrombophilia
Tags
Amber Amber List (moderate evidence)
PROZ
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Protein Z deficiency, OMIM:614024
Tags
Amber Amber List (moderate evidence)
TFPI
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red Red List (low evidence)
MAST2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Venous thromboembolism
  • Thrombophilia
Tags

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