Hereditary neuropathy
Gene: SLC5A7
possibly 2 families, but think more evidence needed. PMID: 23141292 - identified a heterozygous truncating mutation segregated in large Welsh family with progressive distal muscle wasting and weakness affecting the upper and lower limbs and associated with vocal cord paresis. PMID: 29782645 - sunable to access but title states Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside WalesCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, type VIIA
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 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.
Additional families now described with very tight phenotypeCreated: 9 May 2019, 12:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Await further reports before promoting to greenCreated: 8 Jul 2016, 4:21 a.m.
Comment on list classification: Gene added by a reviewer, and rated green by another. Two family reports found, with the same genetic variant.Created: 9 May 2016, 9:49 a.m.
Source Expert Review Green was added to SLC5A7. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added phenotypes Neuronopathy, distal hereditary motor, type VIIA for gene: SLC5A7 Publications for gene SLC5A7 were changed from to 29782645; 23141292
Source South West GLH was added to SLC5A7.
Source NHS GMS was added to SLC5A7.
Source London North GLH was added to SLC5A7.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
SLC5A7 was created by MReilly-925
SLC5A7 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review