This Panel is marked as Retired
Multiple Tumours
Gene: XPC
XPC (XPC complex subunit, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Xeroderma pigmentosum (C) Basal cell carcinoma
- Squamous cell carcinoma
- Melanoma
- OMIM
- 613208
- Clinvar variants
- Variants in XPC
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Adult solid tumours cancer susceptibility
- DDG2P
- Childhood solid tumours
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
History Filter Activity
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)XPC was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)XPC was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)