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Hereditary neuropathy NOT PMP22 copy number

Gene: PPOX

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: variegate porphyria. As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
Created: 6 Dec 2019, 8:50 p.m. | Last Modified: 6 Dec 2019, 8:50 p.m.
Panel Version: 0.74
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 8:49 p.m. | Last Modified: 6 Dec 2019, 8:49 p.m.
Panel Version: 0.74
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Skin photosensitivity. Acute episodes similar to AIP.

Details

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PPOX was added gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP