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. This panel has been retired (30/11/2022) as per request from NHS Genomic Medicine Service.
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
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
AP2S1 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CASR |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GNA11 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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2019-07-31 14:23 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
2019-01-08 15:15 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Reviewed externally and revised with further curation. Ready to promote to version 1.