This panel is used for clinical indication 'R80 Congenital myaesthenic syndrome' 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 'R80 Congenital myaesthenic syndrome'. 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
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)
Group: Other
Workplace: Other
David Beeson (Oxford University)
Group: Other
Workplace: Research lab
Louise Daugherty (Genomics England Curator)
Group: Other
Workplace: Other
Michael Oldridge (NHS)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Zornitza Stark (Australian Genomics)
Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
Mafalda Gomes (Genomics England Curator)
Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
AGRN |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
ALG14 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
ALG2 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CHAT |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CHRNA1 |
5 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CHRNB1 |
5 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CHRND |
5 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CHRNE |
5 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CHRNG |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
COL13A1 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
COLQ |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
DOK7 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
DPAGT1 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GFPT1 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GMPPB |
6 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
LRP4 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MUSK |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MYO9A |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PLEC |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
RAPSN |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SCN4A |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC18A3 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC25A1 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC5A7 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SYT2 |
6 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
VAMP1 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
TOR1AIP1 |
3 reviews1 green 1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CACNA1A |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
LAMA5 |
2 reviews2 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
LAMB2 |
3 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PREPL |
3 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
RYR1 |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SNAP25 |
3 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SYT15 |
2 reviews1 red |
Not set |
Sources
Tags |
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Red List (low evidence) |
UNC13A |
2 reviews2 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Tags |
2023-03-22 14:51 Eleanor Williams (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 14:16 Catherine Snow (Genomics England) 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)
2019-12-10 14:36 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.76) was signed off under NHS Genomic Medicine Service governance on (10/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.