Hereditary neuropathy NOT PMP22 copy numberGene: PLP1
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Pelizaeus-Merbacher/Spastic paraplegia 2 - is neuropathy a feature?
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
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, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
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)
gene: PLP1 was added gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Hereditary Neuropathies