Non-acute porphyrias

Gene: CPOX

Green List (high evidence)

CPOX (coproporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000080819
EnsemblGeneIds (GRCh37): ENSG00000080819
OMIM: 612732, Gene2Phenotype
CPOX is in 9 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 24 Jan 2019, 4:21 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: CPOX; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 3:53 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

More than 3 unrelated cases reported. One homozygous patient repored, therefore mode of inheritance selected was 'both' to cover this. The 'treatable tag was added due to information from PMID: 12227458 in which the patient was treated with heme arginate.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Coproporphyria 121300; Harderoporphyria 121300

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Harderoporphyria OMIM:618892
  • harderoporphyria MONDO:0030048
  • Coproporphyria OMIM:121300
  • hereditary coproporphyria MONDO:0007369
OMIM
612732
Clinvar variants
Variants in CPOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)

17 Mar 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CPOX were set to 27604308

24 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to CPOX. Mode of inheritance for gene CPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300 for gene: CPOX Publications for gene CPOX were changed from to 27604308

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CPOX was added gene: CPOX was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: CPOX was set to