This Panel is marked as Internal
Dystonia - childhood onset
Gene: SLC6A3
SLC6A3 (solute carrier family 6 member 3)
EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- {Nicotine dependence, protection against}, 188890
- Parkinsonism-dystonia, infantile, 613135
- Dopamine transporter deficiency
- OMIM
- 126455
- Clinvar variants
- Variants in SLC6A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SLC6A3 was added gene: SLC6A3 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A3 were set to 21112253; 24613933; 27830117 Phenotypes for gene: SLC6A3 were set to {Nicotine dependence, protection against}, 188890; Parkinsonism-dystonia, infantile, 613135; Dopamine transporter deficiency