Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Gene: ERCC1EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on publications: PMID: 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome
PMID: 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
PMID: 40684071 - hepatorenal syndrome identified in seven individuals from five families carrying biallelic ERCC1 variants. All individuals presented with skin and/or ocular photosensitivity, among other features such as growth restriction, café-au-lait macules, kidney impairment, progressive cholestatic liver disease, and hepatocellular carcinoma.Created: 1 Oct 2025, 9:44 a.m. | Last Modified: 1 Oct 2025, 9:44 a.m.
Panel Version: 3.5
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Many publications regarding the association with variants within this gene and cancer prognosis/drug response.Created: 24 Nov 2016, 5:33 p.m.
Helen Savage (Congenica Ltd)
Reports of association with mild UV-sensitivity.
(see PMID and Imoto, K., et al (2007) Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. J. Invest. Derm. 127: S92 only).Created: 27 Jan 2016, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 4
Publications
- PMID: 17273966
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- xeroderma pigmentosum, MONDO:0019600
- hepatorenal syndrome, MONDO:0001382
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- Complete
- Publications
- 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; ERCC1-Hepatorenal Syndrome to xeroderma pigmentosum, MONDO:0019600; hepatorenal syndrome, MONDO:0001382
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ERCC1 were set to 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosum to Xeroderma Pigmentosum; ERCC1-Hepatorenal Syndrome
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28/Nov/2016: Panel combined and revised due to external and internal review.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ERCC1 were set to 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ERCC1 were set to 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure;
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC1 was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Ellen McDonagh (Genomics England Curator)ERCC1 was created by ellenmcdonagh