Description
This panel is used for clinical indication 'R167 Autosomal recessive primary hypertrophic osteoarthropathy' 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 'R167 Autosomal recessive primary hypertrophic osteoarthropathy'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/557/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (19/02/2020).

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.

This panel is also a constituent panel of super panel 'Skin disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

1 reviewer

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

3 Entities

3 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Green Green List (high evidence)
HPGD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
Tags
Green Green List (high evidence)
SLCO2A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441
Tags
Amber Amber List (moderate evidence)
ACVR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Fibrodysplasia ossificans progressiva, 135100
Tags

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