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Cockayne syndrome

Gene: ERCC5

Red List (low evidence)

ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

More than 3 cases reported with association with Xeroderma pigmentosum, group G/Cockayne syndrome in OMIM, from several different reports and multiple different variants. It is a confirmed DD gene for Xeroderma pigmentosum, group G.
16 Aug 2016, 10:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group G Cockayne syndrome, 278780

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group G Cockayne syndrome, 278780
OMIM
133530
Clinvar variants
Variants in ERCC5
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERCC5 was created by ellenmcdonagh

16 Aug 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC5 was added to Cockayne syndromepanel. Sources: Radboud University Medical Center, Nijmegen