Dystonia, chorea or related movement disorder, childhood onset
Gene: SLC1A3

SLC1A3 (solute carrier family 1 member 3)
EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels

1 review

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

I don't know

Childhood onset but looks to be more ataxic
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

PanelApp
London North GLH
Expert Review Amber

Phenotypes

EPISODIC ATAXIA, TYPE 6

OMIM

600111

Clinvar variants

Variants in SLC1A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SLC1A3. Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EPISODIC ATAXIA, TYPE 6 for gene: SLC1A3 Publications for gene SLC1A3 were changed from to 19139306; 16116111; 27829685

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SLC1A3 was added gene: SLC1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SLC1A3 was set to

Dystonia, chorea or related movement disorder, childhood onset Gene: SLC1A3