Hereditary neuropathyGene: DEGS1
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.
Source Expert Review Green was added to DEGS1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Publications for gene: DEGS1 were set to
Phenotypes for gene: DEGS1 were changed from to Leukodystrophy, hypomyelinating, 18, 618404; Demyelinating neuropathy. Motor developmental delay, spasticity, cerebellar atrophy and microcephaly, hypomyelination on MRI, scoliosis, neurogenic bladder, enteral nutrition
Mode of inheritance for gene: DEGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to DEGS1.
gene: DEGS1 was added gene: DEGS1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: DEGS1 was set to