This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
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
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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
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Panels with this gene
-
- Arthrogryposis
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
- Anophthalmia or microphthalmia
- Neurodegenerative disorders, adult onset
- Severe microcephaly
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, adult onset
- Osteogenesis imperfecta
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Inherited white matter disorders
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Structural eye disease
- IUGR and IGF abnormalities
- Hydroa vacciniforme
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)ERCC6 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC6 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database