Early onset dystonia
Gene: SLC19A3
SLC19A3 (solute carrier family 19 member 3)
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000135917
EnsemblGeneIds (GRCh37): ENSG00000135917
OMIM: 606152, Gene2Phenotype
SLC19A3 is in 16 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 606152
- Clinvar variants
- Variants in SLC19A3
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Mitochondrial disorders
- Fetal anomalies
- Likely inborn error of metabolism
- Early onset dystonia
- Unexplained kidney failure in young people
- Possible mitochondrial disorder - nuclear genes
- Proteinuric renal disease
- Adult onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- DDG2P
- Thiamine metabolism dysfunction syndrome 2
History Filter Activity
17 Oct 2016, Gel status: 1
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.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SLC19A3 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory