Amyotrophic lateral sclerosis/motor neuron disease

Gene: SLC52A2

Green List (high evidence)

SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 19 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

GeneReviews: 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 as a differential of juvenile ALS
Created: 24 Nov 2016, 4:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 2 614707

Ellen McDonagh (Genomics England Curator)

The 'treatable' tag was added as some patients may show significant clinical improvement with riboflavin supplementation.
Created: 3 Nov 2016, 6:41 p.m.
Comment on list classification: Clearly enough evidence for variants in this gene to be causative of Brown-Vialetto-Van Laere syndrome 2 (more than 3 cases/families), and is a green gene on the Charcot-Marie-Tooth disease version 1.1 gene panel. I am unsure however whether this phenotype should be included on this panel.
Created: 3 Nov 2016, 6:40 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, 9:21 a.m.

Phenotypes
condition resembling childhood-onset motor neurone disease

History Filter Activity

13 Aug 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: SLC52A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

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)

SLC52A2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC52A2 was created by ellenmcdonagh