Parkinson Disease and Complex Parkinsonism
Gene: SLC6A3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
infantile and juvenile onset of a complex phenotype characterized by parkinsonism, dystonia, pyramidal tract signs
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.
19th Dec 2016: panel revised according to expert review and further curation.
Phenotypes for SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SLC6A3 was created by ellenmcdonagh
SLC6A3 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen