Childhood onset dystonia, chorea or related movement disorder
Gene: SLC6A3

SLC6A3 (solute carrier family 6 member 3)
EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 11 panels

1 review

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

Green List (high evidence)

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

Dopamine transporter deficiency
Parkinsonism-dystonia, infantile, 613135

OMIM

126455

Clinvar variants

Variants in SLC6A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC6A3 were changed from {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SLC6A3. Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 for gene: SLC6A3 Publications for gene SLC6A3 were changed from to 21112253; 27830117; 24613933