Genes in panel

Hereditary neuropathy

Gene: SLC5A7

Red List (low 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)

I don't know

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
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Red
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuronopathy, distal hereditary motor, type VIIA for gene: SLC5A7 Publications for gene SLC5A7 were changed from to 29782645; 23141292

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SLC5A7.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC5A7.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SLC5A7.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

SLC5A7 was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

SLC5A7 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review