This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: ERCC1
ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: 5' incision DNA binding subunit
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Paediatric disorders - additional genes
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Renal tubulopathies
- Structural eye disease
- Arthrogryposis
- Childhood solid tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- 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
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC1 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC1 was created by ellenmcdonagh