Research panel - Severe Paediatric Disorders
Gene: PPOX

PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 14 panels

2 reviews

Sharon Whatley (International Porphyria Network)

Green List (high evidence)

Relevant metabolic investigation: plasma porphyrin fluorescence emission
The acute porphyrias, including variegate porphyria (VP) is autosomal dominant and usually becomes symptomatic in early adulthood and is therefore not relevant to this panel.
PMID: 37879139 Assaleh reports that biallelic VP is rare. To the best of our knowledge there are 25 patients (from 21 families) reported with homozygous VP (PMID: 40114189 Kaiser, 37879139 Assaleh, 33159949 Cho and references therein). It usually presents in infancy with severe cutaneous manifestations.
PMID: 24073655 Pinder reports the more variable features of homozygous VP to be short stature, brachydactyly, nystagmus, epilepsy, developmental delay and intellectual disability.
Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the PPOX gene due to its low penetrance (~1%).
Created: 8 Sep 2025, 5:10 p.m. | Last Modified: 8 Sep 2025, 5:10 p.m.

Panel Version: 1.213

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
620483

Publications

Created: 8 Sep 2025, 5:10 p.m.
Last Modified: 8 Sep 2025, 5:10 p.m.
Panel version: 1.213

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PPOX; Recommended initial gene rating: Green List (high evidence); Phenotypes: Porphyria variegata, 176200 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Porphyria variegata, 176200

OMIM

600923

Clinvar variants

Variants in PPOX

Penetrance

None

Publications

30847515

Panels with this gene