Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Gene: XPC

Green List (high evidence)

XPC (XPC complex subunit, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green expert review, more than 3 unrelated cases/families reported in OMIM with different variants, and is a confirmed DD gene for this phenotype.
Created: 24 Nov 2016, 4:59 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosa group C

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Xeroderma pigmentosum, group C, 278720
OMIM
613208
Clinvar variants
Variants in XPC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28/Nov/2016: Panel combined and revised due to external and internal review.

24 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for XPC were set to 27413738

27 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

XPC was created by ellenmcdonagh

27 Oct 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

XPC was added to Cockayne and Xeroderma Pigmentosum-like disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services