Amyotrophic lateral sclerosis/motor neuron disease

Gene: SLC52A3

Comment on mode of inheritance: Updated from 'monoallelic' to 'biallelic' as I could not identify evidence supporting relevance of heterozygous variants in disease. This is consistent with the MOI in OMIM/G2P and other PanelApp panels.

Created: 16 Jun 2022, 2:33 p.m. | Last Modified: 16 Jun 2022, 2:33 p.m.

Panel Version: 1.59

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

• 26072523

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