Amyotrophic lateral sclerosis/motor neuron disease

Gene: SLC52A2

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

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