Bilateral congenital or childhood onset cataracts
Gene: ERCC2EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 2; 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. It is a confirmed DD gene for CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 and TRICHOTHIODYSTROPHY PHOTOSENSITIVE (include cataract as a phenotype).
Created: 29 Apr 2016, 2:59 p.m.
Phenotypes
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2; TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cerebrooculofacioskeletal syndrome 2
- Trichothiodystrophy
- CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
- TRICHOTHIODYSTROPHY PHOTOSENSITIVE
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ERCC2 were set to Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2; TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)ERCC2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC2 was added to Cataractspanel. Sources: Expert list