This Panel is marked as Internal
Cockayne syndrome
Gene: ERCC5
ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 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.Created: 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
-
- Intellectual disability
- Anophthalmia or microphthalmia
- Arthrogryposis
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- DDG2P
- Childhood solid tumours
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
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