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Mitochondrial disease

Gene: PPOX

Green List (high evidence)
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)

PMID: 12357337: 7 different variants reported in a cohort of 103 Finnish patients; 40% had photosensitivity. One of the variant, I12T present in gnomad (9 hets). Review in PMID 27982422
Created: 19 Apr 2022, 6:40 a.m. | Last Modified: 19 Apr 2022, 6:40 a.m.
Panel Version: 0.13061

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porphyria variegata , MIM#176200

Publications

Created: 19 Apr 2022, 6:40 a.m.
Last Modified: 19 Apr 2022, 6:40 a.m.
Panel version: Imported from Mendeliome panel version 0.13061

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported.
Sources: Literature, NHS GMS
Created: 21 Mar 2020, 8:27 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Porphyria variegata MIM#176200

Publications

Created: 21 Mar 2020, 8:27 a.m.

Panel version: 0.279

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria variegata MIM#176200
OMIM
600923
Clinvar variants
Variants in PPOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppox has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppox has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PPOX was added gene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629 Phenotypes for gene: PPOX were set to Porphyria variegata MIM#176200 Review for gene: PPOX was set to GREEN