This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service. The panel will routinely be applied for clinical indication 'R129 Catecholaminergic polymorphic VT' but can also be used as part of the analysis for a broader clinical presentation, where relevant. 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 'R129 Catecholaminergic polymorphic VT'. A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information). 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. The content that is agreed for the GMS panels will be reflected in an updated signed off 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. Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel. This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K This panel is also a constituent panel of super panels 'Sudden cardiac death' and 'Cardiac arrhythmias'. Changes made to this panel will automatically be updated in the relevant super panel(s).
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Teofila (Tootie) Bueser (King's College Hospital and Guy's & St Thomas' Hospital)
Group: GeCIP domain
Workplace: NHS clinical service
Kate Thomson (Oxford University Hospitals Foundation Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
James Eden (Manchester)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rebecca Whittington (South West GLH)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
CALM1 |
6 reviews5 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CALM2 |
5 reviews4 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CALM3 |
5 reviews1 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CASQ2 |
7 reviews6 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
RYR2 |
7 reviews6 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
TECRL |
5 reviews3 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
TRDN |
6 reviews5 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
ANK2 |
3 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
KCNE1 |
2 reviews1 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
KCNJ2 |
5 reviews3 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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2023-03-22 15:13 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.
2022-11-30 14:26 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
There have been no changes to green entities on this panel but it is being promoted to the next major version because it is a component of a super panel that is to be re-signed off for the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0).
2019-12-09 14:24 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.29) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.