Description
This panel is used for clinical indication 'R152 Hypocalciuric hypercalcaemia', and can also be applied as a virtual panel in the analysis of genome or exome data 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 'R152 Hypocalciuric hypercalcaemia'.

The content of this panel (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/481/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (03/03/2020).

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.

3 reviewers

  • Treena Cranston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

3 Entities

3 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Green Green List (high evidence)
AP2S1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypocalciuric hypercalcemia, type III, OMIM:600740
Tags
Green Green List (high evidence)
CASR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypocalciuric hypercalcemia, type I, OMIM:145980
Tags
Green Green List (high evidence)
GNA11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypocalcemia, autosomal dominant 2, OMIM:615361
  • Hypocalciuric hypercalcemia, type II, OMIM:145981
Tags

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