Hereditary neuropathyGene: PLP1
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 submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Comment on mode of inheritance: X-linked recessive.
Created: 5 May 2016, 9:25 a.m.
Comment on list classification: Confirmed DD gene for SPASTIC PARAPLEGIA X-LINKED TYPE 2 and LEUKODYSTROPHY HYPOMYELINATING TYPE 1.
Created: 5 May 2016, 9:24 a.m.
Null mutations cause a neuropathy
Created: 16 May 2019, 8:41 p.m.
Loss of function mutations cause demyelinating neuropathy with spasticity
Created: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Source Expert Review Amber was added to PLP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source London North GLH was added to PLP1.
Added phenotypes Hereditary Neuropathies for gene: PLP1
Source NHS GMS was added to PLP1.
Source South West GLH was added to PLP1.
Mode of inheritance for PLP1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Red List (Low Evidence).
PLP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory