Hereditary neuropathyGene: PTPN11
> 3 families reporting a hypertrophic lumbosacral plexopathy
Created: 2 Jun 2019, 9:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
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.
Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Source Expert Review Green was added to PTPN11. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London North GLH was added to PTPN11.
Phenotypes for gene: PTPN11 were changed from Cardiomyopathy to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
Publications for gene: PTPN11 were set to
Mode of inheritance for gene: PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cardiomyopathy for gene: PTPN11
Source NHS GMS was added to PTPN11.
Source South West GLH was added to PTPN11.
PTPN11 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory