Arthrogryposis
Gene: ERCC1EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Phenotype data access in OMIM on 2nd October 2025Created: 2 Oct 2025, 1:07 p.m. | Last Modified: 2 Oct 2025, 1:07 p.m.
Panel Version: 9.11
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Upgrading from Red to Amber but this gene could be promoted to Green at the next GMS panel update.
Two unrelated individuals with biallelic ERCC1 variants have been reported who had cerebrooculofacioskeletal syndrome which includes contractures. Both died in early childhood. Cells from both individuals showed sensitivity to UV-induced DNA damage (PMID: 17273966; 23623389).
Rated Green on other GMS panels for this phenotype (Intellectual disability, Fetal anomalies) based on the same evidence. Number of cases is likely to be small due to severity of the condition.Created: 1 Oct 2025, 1:06 p.m. | Last Modified: 1 Oct 2025, 1:06 p.m.
Panel Version: 9.10
Rebecca Foulger (Genomics England curator)
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Cerebrooculofacioskeletal syndrome 4, OMIM:610758
- Tags
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Paediatric disorders - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, OMIM:610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: ERCC1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ercc1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, 610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4 to Cerebrooculofacioskeletal syndrome 4, 610758
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ERCC1 was added gene: ERCC1 was added to Arthrogryposis. Sources: Literature,Expert Review Red Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 17273966; 23623389 Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4