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  2. Haem degradation and bilirubin metabolism defects
  3. CPOX
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Haem degradation and bilirubin metabolism defects

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)

Well established gene-disease association.
Created: 25 Jun 2020, 10:33 a.m. | Last Modified: 25 Jun 2020, 10:33 a.m.
Panel Version: 0.11

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Coproporphyria, MIM# 121300; Harderoporphyria, MIM# 618892

Created: 25 Jun 2020, 10:33 a.m.
Last Modified: 25 Jun 2020, 10:33 a.m.
Panel version: 0.11

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
  • Harderoporphyria 121300
OMIM
612732
Clinvar variants
Variants in CPOX
Penetrance
None
Panels with this gene

History Filter Activity

25 Jun 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).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CPOX was added gene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria 121300