Adult solid tumours cancer susceptibility
Gene: ERCC1EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
1 review
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Downgraded from Amber to Red as typically childhood onset. Could only identify one report (conference abstract) describing "First Report of ERCC1-Associated Adult-Onset Hepatocellular Carcinoma, Ataxia, and Cognitive Decline" due to a homozygous variant c.466 C>T, p.(Arg156Trp) in exon 4 - https://www.mdsabstracts.org/abstract/first-report-of-ercc1-associated-adult-onset-hepatocellular-carcinoma-ataxia-and-cognitive-decline/Created: 1 Oct 2025, 9:56 a.m. | Last Modified: 1 Oct 2025, 9:56 a.m.
Panel Version: 2.33
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- hepatocellular carcinoma, MONDO:0007256
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Intellectual disability
- Cholestasis
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Renal tubulopathies
- Paediatric disorders - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from xeroderma pigmentosum, MONDO:0019600 to hepatocellular carcinoma, MONDO:0007256
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ercc1 has been classified as Red List (Low Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa to xeroderma pigmentosum, MONDO:0019600
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 to Xeroderma Pigmentosa
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ERCC1 was added gene: ERCC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758