Retinal disorders
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Richard Scott (Genomics England Curator)
Retinopathy part of Cockayne syndromeCreated: 10 Feb 2017, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
133540
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cockayne syndrome, type B, OMIM:133540
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Panels with this gene
-
- Neurodegenerative disorders, adult onset
- Monogenic short stature
- White matter disorders and cerebral calcification - childhood onset
- Severe microcephaly
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Inherited white matter disorders
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Arthrogryposis
- Early onset dystonia
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
- Structural eye disease
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- DDG2P
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B 133540 to Cockayne syndrome, type B, OMIM:133540
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ERCC6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ERCC6 were set to Cockayne syndrome, type B 133540
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for ERCC6 were set to
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for ERCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)ERCC6 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red