Amyotrophic lateral sclerosis/motor neuron disease
Gene: SLC52A1Comment when marking as ready: No publications but one unpublished report of digenic inheritance with SLC52A3 causing BVVL. Offered on UKGTN as diagnostic test but not on D2P as DD geneCreated: 19 Dec 2016, 3:23 p.m.
Comment on list classification: Currently only one case reported in OMIM - need to carry out a literature search.Created: 3 Nov 2016, 6:36 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, 9:19 a.m.
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SLC52A1 was created by ellenmcdonagh
SLC52A1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert list