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
-
- Intellectual disability
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Retinal disorders
- Intracerebral calcification disorders
- Severe microcephaly
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Structural eye disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Early onset dystonia
- Arthrogryposis
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Adult onset dystonia, chorea or related movement disorder
- 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)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