Description
This panel is used for clinical indication 'R124 Combined factor V and VIII deficiency' 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 'R124 Combined factor V and VIII deficiency'.

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/517/?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.

5 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

2 Entities

2 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
2 Entitiess
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 EastGLH
Phenotypes
  • 227300 Combined factor V and VIII deficiency
  • Combined factor V and VIII deficiency, 227300
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
  • Factor V and factor VIII, combined deficiency of, 613625
  • 227300 Combined factor V and VIII deficiency
  • 613625 Factor V and factor VIII, combined deficiency of
Tags

Major version comments

Downloads

Download lists

Download Version