Non-acute porphyrias
Gene: CPOX
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 givenCreated: 7 Jan 2019, 3:53 p.m.
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
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
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)
Publications for gene: CPOX were set to 27604308
Gene: cpox has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to CPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CPOX was added gene: CPOX was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: CPOX was set to