Chromosome Breakage Disorders
Gene: ERCC1

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair.

More than 3 families reported, functional data.
Created: 18 Apr 2021, 7:48 a.m. | Last Modified: 18 Apr 2021, 7:48 a.m.

Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrooculofacioskeletal syndrome 4, MIM# 610758

Publications

Created: 18 Apr 2021, 7:48 a.m.
Last Modified: 18 Apr 2021, 7:48 a.m.
Panel version: 0.58

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cerebrooculofacioskeletal syndrome 4, MIM# 610758
MONDO:0012554

OMIM

126380

Clinvar variants

Variants in ERCC1

Penetrance

None

Publications

Panels with this gene