Hereditary neuropathy
Gene: PEX7
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
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Comment on mode of inheritance: Source: G2PCreated: 4 May 2016, 8:55 a.m.
Comment on list classification: Promoted from amber to green due to agreement from 2 reviewers, and it is a confirmed DD gene for Refsum disease (mentioned in the reviewer's comments).Created: 4 May 2016, 8:54 a.m.
RefsumsCreated: 9 Dec 2015, 8:49 a.m.
RefsumsCreated: 8 Dec 2015, 3:05 p.m.
Source NHS GMS was added to PEX7.
Source London North GLH was added to PEX7. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for PEX7 were set to Hereditary Neuropathies; Refsum disease
Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PEX7 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN
PEX7 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory,UKGTN