This Panel is marked as Retired
Multiple Tumours
Gene: ERCC2
ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 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 (D)
- Basal cell carcinoma
- Squamous cell carcinoma
- Melanoma
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- COVID-19 research
- Structural eye disease
- Inherited white matter disorders
- Childhood solid tumours
- Sarcoma susceptibility
- Bilateral congenital or childhood onset cataracts
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC2 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)