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  2. Photosensitivity Syndromes
  3. XPC
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Photosensitivity Syndromes

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 23 Apr 2021, 11:59 a.m. | Last Modified: 23 Apr 2021, 11:59 a.m.
Panel Version: 0.155

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 23 Apr 2021, 11:59 a.m.
Last Modified: 23 Apr 2021, 11:59 a.m.
Panel version: Imported from Chromosome Breakage Disorders panel version 0.155

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
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

24 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpc has been classified as Green List (High Evidence).

24 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: XPC were set to

24 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XPC was added gene: XPC was added to Photosensitivity syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XPC was set to Unknown