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Fetal anomalies

Gene: XPC

Red List (low evidence)

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

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

Not detectable antenatally
Created: 14 Feb 2022, 12:18 a.m. | Last Modified: 14 Feb 2022, 12:18 a.m.
Panel Version: 0.3380

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Xeroderma pigmentosum, group C, MIM# 278720
  • MONDO:0010211
OMIM
613208
Clinvar variants
Variants in XPC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpc has been classified as Red List (Low Evidence).

15 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XPC were changed from XERODERMA PIGMENTOSUM, GROUP C to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211

15 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XPC were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XPC was added gene: XPC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C