This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- None
- Panels with this gene
-
- Severe microcephaly
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Inherited white matter disorders
- Monogenic short stature
- Retinal disorders
- Arthrogryposis
- Structural eye disease
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Anophthalmia or microphthalmia
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ERCC8 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ERCC8 was created by Sarah Leigh