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 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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/516/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (23/09/2019).
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

20 Entities

20 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
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)
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
  • 616004 Dysfibrinogenemia, congenital
  • 105200 Amyloidosis, familial visceral
  • 616004 Hypodysfibrinogenemia, congenital
  • 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
  • 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital
  • 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital
  • 616004 Dysfibrinogenemia, 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 Dysfibrinogenemia, congenital
  • 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital
  • 616004 Hypodysfibrinogenemia, congenital
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
  • 613116 Thrombophilia due to HRG deficiency
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
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
  • 612304 Thrombophilia due to protein C deficiency, autosomal recessive
  • 176860 Thrombophilia due to protein C deficiency, autosomal dominant
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
  • 612336 Thrombophilia due to protein S deficiency, autosomal dominant
  • 614514 Thrombophilia due to protein S deficiency, autosomal recessive
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
  • 613118 Thrombophilia due to antithrombin III deficiency
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
  • 612356 Thrombophilia due to heparin cofactor II deficiency
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
  • 614486 Thrombophilia due to thrombomodulin defect
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
  • 612348 Thrombophilia, due to decreased release of PLAT
  • 612348 Thrombophilia, familial, due to decreased release of PLAT
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
  • 614024 Protein Z deficiency
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

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