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

This panel is used for clinical indication 'R162 Familial tumoral calcinosis' 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 'R162 Familial tumoral calcinosis'.

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/552/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

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.

2 reviewers

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

4 Entities

4 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green Green List (high evidence)
FGF23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993
Tags
Green Green List (high evidence)
GALNT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Tags
Amber Amber List (moderate evidence)
SAMD9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, familial, normophosphatemic, 610455
Tags
Red Red List (low evidence)
KL
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 617994
Tags

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