Vascular skin disorders

Gene: PPOX

Red List (low evidence)

PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 12 panels

1 review

Catherine Snow (Genomics England)

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

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ppox has been classified as Red List (Low Evidence).

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ppox has been classified as Red List (Low Evidence).

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ppox has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: PPOX was added gene: PPOX was added to Vascular skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown