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  3. CPOX
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Photosensitivity Syndromes

Gene: CPOX

Green List (high evidence)
CPOX (coproporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000080819
EnsemblGeneIds (GRCh37): ENSG00000080819
OMIM: 612732, Gene2Phenotype
CPOX is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 30828546 - 1 chet patient (missense/inframe deletion) with harderoporphyria and chronic cutaneous photosensitivity.

PMID: 28349448 - 1 het (PTC) neonatal patient with coproporphyria and skin photosensitivity

PMID: 23582006 - 1 het (missense) adult patient with photosensitivity and skin fragility. Incomplete penetrance reported.

PMID: 24156084 - 1 het (PTC) adult patient with coproporphyria
Sources: Expert list
Created: 22 Jul 2020, 2:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Coproporphyria 121300; Harderoporphyria 618892

Publications

Created: 22 Jul 2020, 2:41 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coproporphyria 121300
  • Harderoporphyria 618892
OMIM
612732
Clinvar variants
Variants in CPOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPOX was added gene: CPOX was added to Photosensitivity Syndromes. Sources: Expert list Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPOX were set to 30828546; 28349448; 23582006; 24156084 Phenotypes for gene: CPOX were set to Coproporphyria 121300; Harderoporphyria 618892 Review for gene: CPOX was set to GREEN