This Panel is marked as Retired
Multiple Tumours
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)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Xeroderma Pigmentosum (G)
- Basal cell carcinoma
- Squamous cell carcinoma
- Melanoma
- OMIM
- 133530
- Clinvar variants
- Variants in ERCC5
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Intellectual disability
- Severe microcephaly
- DDG2P
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Arthrogryposis
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
History Filter Activity
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC5 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC5 was created by ellenmcdonagh