Parkinson Disease and Complex Parkinsonism
Gene: SLC6A3

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

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile and juvenile onset of a complex phenotype characterized by parkinsonism, dystonia, pyramidal tract signs

Created: 29 Nov 2016, 3:56 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 6 cases/family reports for different homozygous variants in this gene and Parkinsonism-dystonia, infantile. Also green on the Early onset dystonia gene panel, Version 1.0.
Created: 2 Nov 2016, 1:54 p.m.

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Is also known as dopamine transporter.
Created: 10 Jun 2016, 11:27 a.m.

Created: 10 Jun 2016, 11:27 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Parkinsonism-dystonia, infantile, 613135

OMIM

126455

Clinvar variants

Variants in SLC6A3

Penetrance

Complete

Panels with this gene