This panel is used for clinical indication 'R227 Xeroderma pigmentosum, Trichothiodystrophy or Cockayne 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 'R227 Xeroderma pigmentosum, Trichothiodystrophy or Cockayne 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. 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 is a combined gene panel for the following disorders: - Cockayne syndrome (panel version 0.29 was added) - XP-like disorders (panel version 0.1 was added)
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Helen Savage (Congenica Ltd)
Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Michael Yau (Genetics, Viapath)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Brian Wilson (Great Ormond Street Hospital)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)
Group: Other
Workplace: Other
Ruth Sutton (Northern Genetics Service, Newcastle upon Tyne Hospitals NHS FT)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)
Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
Alan Lehmann (University of Sussex/GSTT)
Group: Other NHS organisation
Workplace: Other diagnostic lab
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
CARS |
3 reviews3 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
DDB2 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC1 |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC2 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC3 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC4 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC5 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC6 |
4 reviews3 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ERCC8 |
4 reviews3 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GTF2E2 |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GTF2H5 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MPLKIP |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
POLH |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
RNF113A |
3 reviews2 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
XPA |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
XPC |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
AARS |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
MRE11 |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
TARS |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DDB1 |
2 reviews1 red |
Not set |
Sources
Tags |
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| Red List (low evidence) |
MARS |
3 reviews1 green 2 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2023-03-22 16:58 Sarah Leigh (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.
2019-12-12 17:27 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.8) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
28/Nov/2016: Panel combined and revised due to external and internal review.