Fetal anomalies
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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPC gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.

DDG2P rating in original PAGE list: Confirmed for XERODERMA PIGMENTOSUM, GROUP C
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

XERODERMA PIGMENTOSUM, GROUP C

OMIM

613208

Clinvar variants

Variants in XPC

Penetrance

None

Panels with this gene

History Filter Activity

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to XPC. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: XPC was added gene: XPC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C

Fetal anomalies Gene: XPC