DNA Repair Genes pertinent cancer susceptibility
Gene: XPCEnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 11 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Nucleotide excision repair (NER)
- Activity: Binds DNA distortions
- OMIM
- 613208
- Clinvar variants
- Variants in XPC
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: added new-gene-name tag. Appr
Created
Ellen McDonagh (Genomics England Curator)XPC was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)XPC was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database