This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606152
- Clinvar variants
- Variants in SLC19A3
- Penetrance
- None
- Panels with this gene
-
- Proteinuric renal disease
- Structural basal ganglia disorders
- Intellectual disability
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Early onset dystonia
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Thiamine metabolism dysfunction syndrome 2
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)SLC19A3 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)SLC19A3 was created by Sarah Leigh