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 'R133 Arrythmogenic right ventricular cardiomyopathy' 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 'R133 Arrythmogenic right ventricular cardiomyopathy'. 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 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 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 the super panel 'Sudden cardiac death'. Changes made to this panel will automatically be updated in the relevant super panel(s).
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Bill Newman (Manchester Centre for Genomic Medicine)
Group: other
Workplace: other
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
Caroline Wright (Genomics England Curator)
Group: Other
Workplace: Genomics England
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Zornitza Stark (Australian Genomics)
Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
DES |
8 reviews3 green 1 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
DSC2 |
7 reviews6 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
DSG2 |
7 reviews6 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
DSP |
8 reviews6 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
FLNC |
5 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
JUP |
7 reviews6 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
LMNA |
6 reviews2 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PKP2 |
7 reviews6 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PLN |
8 reviews4 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
TMEM43 |
7 reviews6 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
ANK2 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Tags |
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| Amber List (moderate evidence) |
CDH2 |
4 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
CAVIN4 |
1 review |
Unknown |
Sources
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
CTNNA3 |
3 reviews3 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
LDB3 |
3 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
RBM20 |
4 reviews1 green 2 red |
Not set |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
RYR2 |
9 reviews2 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
SCN5A |
5 reviews1 green 3 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
TGFB3 |
5 reviews4 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
TTN |
8 reviews1 green 4 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2022-11-30 15:46 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
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 (3.0) following this.
2019-12-09 14:51 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.58) 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.
GEL: 15th February 2016