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Hereditary neuropathy NOT PMP22 copy number

Gene: SLC5A7

Green List (high evidence)

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 10 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

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 Wales
Created: 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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / Limited evidence? See Natalie review but AR says multiple families
Created: 6 Dec 2019, 2:46 p.m. | Last Modified: 6 Dec 2019, 2:46 p.m.
Panel Version: 0.37
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:24 p.m. | Last Modified: 6 Dec 2019, 1:24 p.m.
Panel Version: 0.20
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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Additional families now described with very tight phenotype
Created: 9 May 2019, 12:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Richard Scott (Genomics England Curator)

Comment on list classification: Await further reports before promoting to green
Created: 8 Jul 2016, 4:21 a.m.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc5a7 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC5A7 was added gene: SLC5A7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC5A7 were set to 23141292; 29782645 Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA