Hereditary Pigmentary Disorders

Gene: ERCC1

Green List (high evidence)

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.
Created: 15 Dec 2020, 9:57 a.m. | Last Modified: 18 Apr 2021, 7:50 a.m.
Panel Version: 0.7212

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 4, MIM# 610758

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • cerebrooculofacioskeletal syndrome 4 MONDO:0012554
  • Xeroderma pigmentosum
OMIM
126380
Clinvar variants
Variants in ERCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ercc1 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ercc1 has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ERCC1 was added gene: ERCC1 was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086; 33315086 Phenotypes for gene: ERCC1 were set to cerebrooculofacioskeletal syndrome 4 MONDO:0012554; Xeroderma pigmentosum