Bilateral congenital or childhood onset cataracts
Gene: ERCC8EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Cockayne syndrome type A.Created: 13 May 2016, 1:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome type A MIMID; UV-sensitive syndrome 2; confirmed DD gene for Cockayne Syndrome Type A
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Cockayne syndrome type A MIMID
- UV-sensitive syndrome 2
- confirmed DD gene for Cockayne Syndrome Type A
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- Complete
- Panels with this gene
-
- Severe microcephaly
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Inherited white matter disorders
- Fetal anomalies
- Structural eye disease
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Monogenic short stature
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Arthrogryposis
- 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 ERCC8 were set to Cockayne syndrome type A MIMID; UV-sensitive syndrome 2; confirmed DD gene for Cockayne Syndrome Type A
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ERCC8 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()ERCC8 was added to Cataractspanel. Sources: UKGTN