Photosensitivity Syndromes
Gene: ERCC3

ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nucleotide excision repair disorder, variable severity, photosensitivity is a feature.
Created: 19 Apr 2021, 10:15 a.m. | Last Modified: 24 Apr 2021, 1:02 a.m.

Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651

Publications

Created: 19 Apr 2021, 10:15 a.m.
Last Modified: 24 Apr 2021, 1:02 a.m.
Panel version: Imported from Chromosome Breakage Disorders panel version 0.61

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Trichothiodystrophy 2, photosensitive, MIM# 616390
Xeroderma pigmentosum, group B 61, MIM#0651

OMIM

133510

Clinvar variants

Variants in ERCC3

Penetrance

None

Publications

Panels with this gene