This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
Gene: ERCC2
ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: 5' to 3' DNA helicase
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- Complete
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited white matter disorders
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Sarcoma susceptibility
- 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
Created
Ellen McDonagh (Genomics England Curator)ERCC2 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC2 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database