This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
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
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: Cockayne syndrome and UV-Sensitive Syndrome
- Needed for transcription-coupled NER
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Retinal disorders
- Severe microcephaly
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Structural eye disease
- Osteogenesis imperfecta
- Arthrogryposis
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Monogenic short stature
- Fetal anomalies
- DDG2P
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Anophthalmia or microphthalmia
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC8 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC8 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database