Early onset dystonia
Gene: SLC6A3EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes dopamine transportopathy with dystonia as part of the phenotype.Created: 27 May 2016, 9:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Nicotine dependence, protection against}, 188890
- Parkinsonism-dystonia, infantile, 613135
- OMIM
- 126455
- Clinvar variants
- Variants in SLC6A3
- Penetrance
- Complete
- Publications
-
- PMID: 24613933
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SLC6A3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for SLC6A3 were set to PMID: 24613933
Added New Source
GEL ()SLC6A3 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SLC6A3 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen