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Prepair 1000+

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 11 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene disease association. Severe DNA repair disorder, early childhood onset. Characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer. Can cause premature death.
Created: 7 Mar 2025, 2:18 a.m. | Last Modified: 7 Mar 2025, 2:21 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xeroderma pigmentosum, group C, 278720 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Xeroderma pigmentosum, group C, 278720 (3)
OMIM
613208
Clinvar variants
Variants in XPC
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Xeroderma pigmentosum, group C, 278720 (3) for gene: XPC

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)