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  2. Early onset and familial Parkinson's Disease
  3. SLC6A3
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Early onset and familial Parkinson's Disease

Gene: SLC6A3

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

1 review

Ellen McDonagh (Genomics England Curator)

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: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism -dystonia, infantile, 613135
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism-dystonia, infantile, 613135
OMIM
126455
Clinvar variants
Variants in SLC6A3
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC6A3 was changed to BIALLELIC, autosomal or pseudoautosomal

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC6A3 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen