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
-
- Arthrogryposis
- Intellectual disability
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Paediatric disorders - additional genes
- Fetal anomalies
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Cholestasis
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Renal tubulopathies
- Monogenic hearing loss
- Structural eye disease
- Childhood solid tumours
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