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  3. CPOX
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Hereditary Neuropathy - complex

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)

Acute intermittent porphyria-like phenotype, including neuropathy.
Sources: NHS GMS
Created: 31 Mar 2020, 7:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 31 Mar 2020, 7:37 a.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coproporphyria, MIM#121300
  • Harderoporphyria, MIM#121300
OMIM
612732
Clinvar variants
Variants in CPOX
Penetrance
None
Panels with this gene

History Filter Activity

31 Mar 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).

31 Mar 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).

31 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPOX was added gene: CPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPOX were set to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300 Review for gene: CPOX was set to GREEN