Amyotrophic lateral sclerosis/motor neuron disease

Gene: SLC52A1

Red List (low evidence)

SLC52A1 (solute carrier family 52 member 1)
EnsemblGeneIds (GRCh38): ENSG00000132517
EnsemblGeneIds (GRCh37): ENSG00000132517
OMIM: 607883, Gene2Phenotype
SLC52A1 is in 8 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No publications but one unpublished report of digenic inheritance with SLC52A3 causing BVVL.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 gene
Created: 19 Dec 2016, 3:23 p.m.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Riboflavin deficiency (condition resembling childhood-onset motor neurone disease)
OMIM
607883
Clinvar variants
Variants in SLC52A1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

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: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low 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

Created

Ellen McDonagh (Genomics England Curator)

SLC52A1 was created by ellenmcdonagh

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC52A1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert list