Early onset dystonia
Gene: SLC6A3Comment on list classification: It is a confirmed DD gene for PARKINSONISM-DYSTONIA, INFANTILE, and >3 cases reported in OMIM for different variants.Created: 25 Aug 2016, 10:03 a.m.
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.Created: 10 Jun 2016, 8:48 a.m.
Also known as dopamine transporter.Created: 9 Jun 2016, 10:50 a.m.
Comment on list classification: Causes dopamine transportopathy with dystonia as part of the phenotype.Created: 27 May 2016, 9:47 a.m.
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC6A3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for SLC6A3 were set to PMID: 24613933
SLC6A3 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
SLC6A3 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen