Amyotrophic lateral sclerosis/motor neuron disease

Gene: SLC52A3

Green List (high evidence)

SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 17 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

BVVL has been described as an autosomal recessive juvenile form of ALS since both BVVL and ALS have bulbar and LMN involvement. BVVL differs from ALS in that BVVL includes deafness and has an earlier age of onset and a more irregular disease course; UMN limb signs are not invariably present. Reasonable to include in this panel as BVVL is a differential of juvenile ALS
Created: 24 Nov 2016, 4:04 p.m.

Phenotypes
Brown-Vialetto-Van Laere syndrome 1 211530

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Again, sufficient evidence that variants in this gene cause Brown-Vialetto-Van Laere syndrome 1, however I am unsure whether this should be included on this panel.
Created: 3 Nov 2016, 6:46 p.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "Mutations in SLC52A1, SLC52A2 and SLC52A3 are causes of conditions resembling childhood- onset motor neurone disease"
Created: 13 Jun 2016, 9:23 a.m.

Phenotypes
conditions resembling childhood-onset motor neurone disease

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 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).

15 Jun 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).

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC52A3 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC52A3 was created by ellenmcdonagh