This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Cockayne syndrome, type A, 216400
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- Anophthalmia or microphthalmia
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)ERCC8 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ERCC8 was created by rfoulger