Vascular skin disorders

Gene: PPOX

Red List (low evidence)

Cutaneous variegate porphyria (VP) presents with photosensitivity which may result in blistering, erosions, a fragile skin with chronic scarring and pigmentary changes. 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: 8 Sep 2025, 10:14 a.m. | Last Modified: 8 Sep 2025, 10:14 a.m.

Panel Version: 2.1

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
176200; 620483

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: 0.36

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: 0.36

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

Created: 2 Dec 2019, 11:44 a.m. | Last Modified: 2 Dec 2019, 11:44 a.m.

Panel Version: 0.15

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:PPOX; 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