Hereditary neuropathy NOT PMP22 copy numberGene: PEX7
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, 8:25 p.m. | Last Modified: 6 Dec 2019, 8:25 p.m.
Panel Version: 0.63
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Created: 6 Dec 2019, 8:22 p.m. | Last Modified: 6 Dec 2019, 8:22 p.m.
Panel Version: 0.62
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: G2P
Created: 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.
Created: 9 Dec 2015, 8:49 a.m.
Created: 8 Dec 2015, 3:05 p.m.
Gene: pex7 has been classified as Amber List (Moderate Evidence).
gene: PEX7 was added gene: PEX7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Hereditary Neuropathies; Refsum disease