Anophthalmia or microphthalmia
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
1 review
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Sources
-
- UKGTN
- OMIM
- 133510
- Clinvar variants
- Variants in ERCC3
- 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
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC3 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN