Hereditary neuropathy

Gene: PLP1

I don't know

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.

Red List (low evidence)

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

Phenotypes
Hereditary Neuropathies

Green List (high evidence)

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.

Green List (high evidence)

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.