Rare anaemia
Gene: PPOX
PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 14 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Ida Ertmanska, PPOX gene is not relevant to Rare anaemia panel. Hence, the rating should be grey and 'curated_removed' tag added to reflect this.Created: 15 Oct 2025, 10:45 a.m. | Last Modified: 15 Oct 2025, 10:45 a.m.
Panel Version: 3.11
Ida Ertmanska (Genomics England Curator)
The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name. PPOX variants do not appear to cause anaemia.Created: 14 Oct 2025, 10:10 a.m. | Last Modified: 14 Oct 2025, 1:11 p.m.
Panel Version: 3.10
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- 121300
- 618892
- Tags
- OMIM
- 600923
- Clinvar variants
- Variants in PPOX
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Variegate porphyria
- Mitochondrial disorders
- Non-acute porphyrias
- Vascular skin disorders
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Cutaneous photosensitivity with a likely genetic cause
History Filter Activity
15 Oct 2025, Gel status: 0
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ppox has been removed from the panel.
15 Oct 2025, Gel status: 0
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag curated_removed tag was added to gene: PPOX.
11 Sep 2025, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sharon Whatley (International Porphyria Network)gene: PPOX was added gene: PPOX was added to Rare anaemia. Sources: Other Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PPOX were set to 38940544; 30828546; 9454777; 7757079; 40296768; 21103937 Phenotypes for gene: PPOX were set to 121300; 618892 Penetrance for gene: PPOX were set to Incomplete Review for gene: PPOX was set to GREEN