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Cockayne syndrome

Gene: ERCC8

Green List (high evidence)

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 11 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: See reviewer comments. Loss-of-function variants indicated as the mutation consequence in Gene2Phenotype.
25 Jul 2016, 9:46 a.m.
Comment on list classification: Promoted from red to green due to two expert reviews. It is a confirmed DD gene for Cockayne Syndrome Type A.
25 Jul 2016, 9:45 a.m.
Relevant phenotype and mode of inheritance sourced from OMIM.
8 Jan 2016, 12:12 p.m.

Ruth Sutton (Northern Genetics Service, Newcastle upon Tyne Hospitals NHS FT)

Green List (high evidence)

The Northern Genetics Service offer Sanger sequencing for all 12 exons of ERCC8 (NM000082.3), as an NHS service and as part of the Cockayne syndrome Natural History study, which comprises the largest cohort of patients with CS reported to date.
12 Feb 2016, 1:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cockayne syndrome phenotype and UV-sensitive syndrome

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Brian Wilson (Great Ormond Street Hospital)

Green List (high evidence)

Mutations in ERCC8 (CSA) account for 25-30% of genetically confirmed cases of Cockayne syndrome (CS; PMID: 26204423). There are regional variations, with a greater proportion of ERCC8 mutations accounting for the phenotype in Japan and parts of the Middle East. Missense mutations in ERCC8 may result in a UV-sensitive syndrome phenotype, i.e. patients exhibit only dermal photosensitivity (with no increased skin cancer risk) and hyperpigmentation in sun exposed areas, and do not have small stature, microcephaly, developmental delay or the premature pathological ageing that characterises the CS phenotype. As our experience increases, a putative relationship between mutation type and position, and phenotype is emerging.

The Northern Genetics Service Molecular Genetics Laboratory (Newcastle upon Tyne NHS Hospitals FT) provides diagnostic sequencing independently and as part of the Cockayne syndrome Natural History study, and I believe has the greatest experience with mutation positive cases for ERCC6 and ERCC8 internationally.
10 Feb 2016, 9:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
I have already supplied the HPO terms for CS to Genomics England, based on our recent study findings (PMID: 26204423) - all of these are applicable to the phenotypes associated with both ERCC6 and ERCC8 - I am happy to annotate this review with them if necessary; a UV-sensitive syndrome phenotype may also occur.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Other
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cockayne syndrome, type A
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • PMID: 26204423
OMIM
609412
Clinvar variants
Variants in ERCC8
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

16 Aug 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

ERCC8 was added to Cockayne syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services

16 Aug 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

ERCC8 was added to Cockayne syndromepanel. Sources: Radboud University Medical Center, Nijmegen

16 Aug 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

ERCC8 was added to Cockayne syndromepanel. Sources: UKGTN

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ERCC8 were set to Cockayne syndrome, type A; Cockayne syndrome phenotype and UV-sensitive syndrome; PMID: 26204423

25 Jul 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ERCC8 were set to 26204423

25 Jul 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ERCC8 was changed to Other - please provide details in the comments

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene ERCC8 were set to Cockayne syndrome, type A

8 Jan 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

ERCC8 was added to Cockayne syndromepanel. Sources: Other

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC8 was added to Cockayne syndromepanel. Sources: Eligibility statement prior genetic testing

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERCC8 was created by ellenmcdonagh