Hydroa vacciniforme
Gene: ERCC6
ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: This gene doesn't fit with this phenotype. There have been a couple of reported cases with a mild Cockayne-type phenotype with mutations in ERCC6, but there is insufficient evidence to use this for diagnostic testing.Created: 29 Jan 2016, 5:32 p.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980
- 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
29 Jan 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC6 was added to Hydroa Vacciniforme panel. Sources: Radboud University Medical Center, Nijmegen