Description
This panel has been created as a placeholder for a new panel in development.

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

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.

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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