Description
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'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local 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)

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Brian Wilson (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • 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

17 Entities

17 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green Green List (high evidence)
DDB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Tags
Green Green List (high evidence)
ERCC1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Xeroderma Pigmentosum
Tags
Green Green List (high evidence)
ERCC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group D, 278730
  • Trichothiodystrophy, 601675
Tags
Green Green List (high evidence)
ERCC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group B, 610651
  • Trichothiodystrophy, 601675
Tags
Green Green List (high evidence)
ERCC4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Tags
Green Green List (high evidence)
ERCC5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group G, 278780
  • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Tags
Green Green List (high evidence)
ERCC6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cockayne syndrome, type B
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • PMID: 26204423
  • Cockayne syndrome B
  • De Sanctis-Cacchione syndrome
  • UV-sensitive syndrome 1
Tags
Green Green List (high evidence)
ERCC8
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cockayne syndrome, type A
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • PMID: 26204423
Tags
Green Green List (high evidence)
GTF2H5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Trichothiodystrophy 3, photosensitive
  • Photosensitive trichothiodystrophy 3
Tags
Green Green List (high evidence)
MPLKIP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Non-photosensitive trichothiodystrophy 4
Tags
Green Green List (high evidence)
POLH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, variant type, 278750
Tags
  • deletions
Green Green List (high evidence)
XPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group A, 278700
Tags
Green Green List (high evidence)
XPC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Xeroderma pigmentosum, group C, 278720
Tags
Amber Amber List (moderate evidence)
GTF2E2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive
  • 616943
Tags
Amber Amber List (moderate evidence)
MRE11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nijmegen breakage syndrome-like severe microcephaly
Tags
  • watchlist
Red Red List (low evidence)
DDB1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
RNF113A
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Trichothiodystrophy 5, nonphotosensitive
Tags

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