Unexplained kidney failure in young people
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
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- OMIM
- 606152
- Clinvar variants
- Variants in SLC19A3
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Thiamine metabolism dysfunction syndrome 2
- Proteinuric renal disease
- Undiagnosed metabolic disorders
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)SLC19A3 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC19A3 was created by sleigh