Hydroa vacciniforme
Gene: ERCC8
ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: There is one case of a mild phenotype with mutations in ERCC8 but currently insufficient evidence to use this as a diagnostic test in this condition.Created: 29 Jan 2016, 5:38 p.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- Complete
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Severe microcephaly
- Intellectual disability
- Inherited white matter disorders
- Monogenic short stature
- Retinal disorders
- Arthrogryposis
- Structural eye disease
- Fetal anomalies
- Osteogenesis imperfecta
- Hereditary neuropathy or pain disorder
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Bilateral congenital or childhood onset cataracts
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Anophthalmia or microphthalmia
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 ()ERCC8 was added to Hydroa Vacciniforme panel. Sources: Radboud University Medical Center, Nijmegen