Bilateral congenital or childhood onset cataracts
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 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. Confirmed DD gene for cerebro-oculo-facio-skeletal syndrome type 1 which both include cataract as a phenotype in Gene2Phenotype.Created: 29 Apr 2016, 10:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome type B; UV-sensitivesyndrome 1; Cerebrooculofacioskeletalsyndrome 1
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Cockayne syndrome type B
- UV-sensitivesyndrome 1
- Cerebrooculofacioskeletalsyndrome 1
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Bilateral congenital or childhood onset cataracts
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Hereditary neuropathy or pain disorder
- Severe microcephaly
- Arthrogryposis
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Monogenic short stature
- Hereditary neuropathy
- Fetal anomalies
- Structural eye disease
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- DDG2P
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 ERCC6 were set to Cockayne syndrome type B; UV-sensitivesyndrome 1; Cerebrooculofacioskeletalsyndrome 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ERCC6 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 ()ERCC6 was added to Cataractspanel. Sources: UKGTN