Bilateral congenital or childhood onset cataracts
Gene: ERCC3
ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Gene added from the Manchester congenital cataracts gene panel. Phenotype from the panel. It is a confirmed DD gene for Trichothiodystrophy photosensitive (includes cataract as a phenotype).Created: 29 Apr 2016, 3:02 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Trichothiodystrophy
- OMIM
- 133510
- Clinvar variants
- Variants in ERCC3
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Adult solid tumours cancer susceptibility
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
- Fetal anomalies
History Filter Activity
14 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC3 was added to Cataractspanel. Sources: Expert list
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC3 was created by ellenmcdonagh