Childhood onset dystonia, chorea or related movement disorder
Gene: SLC6A5

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 10 panels

1 review

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

I don't know

?movement disorder
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

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

PanelApp
London North GLH
Expert Review Amber

Phenotypes

Hyperekplexia 3, 614618

OMIM

604159

Clinvar variants

Variants in SLC6A5

Penetrance

None

Publications

16751771

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 SLC6A5. Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5 Publications for gene SLC6A5 were changed from to 16751771

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SLC6A5 was added gene: SLC6A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: SLC6A5 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: SLC6A5