Childhood onset dystonia, chorea or related movement disorder
Gene: SLC46A1

SLC46A1 (solute carrier family 46 member 1)
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels

2 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Movement disorder not listed as a part of the phenotype
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH
Expert Review Red
London North GLH

Phenotypes

Folate malabsorption, hereditary, OMIM:229050

OMIM

611672

Clinvar variants

Variants in SLC46A1

Penetrance

None

Panels with this gene

History Filter Activity

9 Oct 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary, 229050 to Folate malabsorption, hereditary, OMIM:229050

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SLC46A1. Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance