Vascular skin disorders

Gene: CPOX

Red List (low evidence)

PMID: 23236641 Wang reports that cutaneous hereditary coproporphyria (HCP) presents with photosensitivity which may result in blistering, erosions and fragility of light-exposed skin, in particular on the backs of the hands that result in depigmented scars. Facial skin damage also occurs, with excess hair growth on the temples, ears, and cheeks. It is not caused by abnormal growths or malformations of the blood vessels in the skin and therefore is not relevant to this panel.

Created: 11 Sep 2025, 9:57 a.m. | Last Modified: 11 Sep 2025, 9:57 a.m.

Panel Version: 2.1

Publications

• 23236641

I don't know

Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."

Created: 11 Dec 2019, 8:10 p.m. | Last Modified: 11 Dec 2019, 8:10 p.m.

Panel Version: 0.35

Comment on list classification: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPOX should be classified as Red.

Created: 2 Dec 2019, 11:45 a.m. | Last Modified: 2 Dec 2019, 11:45 a.m.

Panel Version: 0.16

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:CPOX; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.

Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.

Panel Version: 0.13