Dystonia, chorea or related movement disorder, childhood onset
Gene: SLC19A3

SLC19A3 (solute carrier family 19 member 3)
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 16 panels

1 review

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

Green List (high evidence)

Dystonia, rigidity
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

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Dystonia
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483

OMIM

606152

Clinvar variants

Variants in SLC19A3

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SLC19A3. Mode of inheritance for gene SLC19A3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia; Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 for gene: SLC19A3

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SLC19A3 was added gene: SLC19A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to

Dystonia, chorea or related movement disorder, childhood onset Gene: SLC19A3