1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. SLC46A1
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: SLC46A1

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:47 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.88

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Movement disorder not listed as a part of the phenotype
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Folate malabsorption, hereditary, 229050

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

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; Dystonia to Folate malabsorption, hereditary, OMIM:229050

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1 Publications for gene SLC46A1 were changed from to 20301716

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC46A1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SLC46A1.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC46A1 was added gene: SLC46A1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SLC46A1 was set to Phenotypes for gene: SLC46A1 were set to Dystonia