Hereditary neuropathyGene: PPOX
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skin photosensitivity. Acute episodes similar to AIP.
Source Expert Review Green was added to PPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: PPOX were changed from to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
Mode of inheritance for gene: PPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to PPOX.
gene: PPOX was added gene: PPOX was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PPOX was set to