Paediatric motor neuronopathies

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

Pinki Munot (Consultant )

Red List (low evidence)

no evidence of a neuronopathy caused by this gene.
Created: 2 Mar 2017, 6:57 p.m.

Alice Gardham (Genomics England)

Red List (low evidence)

No publications but one unpublished report of digenic inheritance with SLC52A3 causing BVVL.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: 2 Nov 2016, 12:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

SLC52A1 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN