Hereditary neuropathyGene: PNPLA6
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 uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
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.
Complex phenotype with neuropathy (>3 families)
Created: 2 Jun 2019, 9:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Source Expert Review Amber was added to PNPLA6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source London North GLH was added to PNPLA6.
Phenotypes for gene: PNPLA6 were changed from Hereditary Neuropathies to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Publications for gene: PNPLA6 were set to
Mode of inheritance for gene: PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary Neuropathies for gene: PNPLA6
Source NHS GMS was added to PNPLA6.
Source South West GLH was added to PNPLA6.
PNPLA6 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory