Haem degradation and bilirubin metabolism defects
Gene: PPOX

PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Variegate porphyria, childhood-onset, MIM# 620483

Publications

Created: 27 Aug 2023, 7:22 a.m.
Last Modified: 27 Aug 2023, 7:22 a.m.
Panel version: 0.13

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-known gene disease association. Green on PanelApp UK. Reviewed in PMID 27982422 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK121283/)
Created: 25 Jun 2020, 5:25 a.m. | Last Modified: 25 Jun 2020, 5:25 a.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Porphyria variegata, MIM#600923

Publications

27982422

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 5:25 a.m.
Last Modified: 25 Jun 2020, 5:25 a.m.
Panel version: 0.1

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Porphyria variegata, MIM# 176200
Variegate porphyria, childhood-onset, MIM# 620483

OMIM

600923

Clinvar variants

Variants in PPOX

Penetrance

None

Publications

Panels with this gene