Unexplained kidney failure in young people
Gene: SLC19A2
SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Thiamine-Responsive Megaloblastic Anemia
- Thiamine-responsive megaloblastic anemia syndrome, 249270
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Rare anaemia
- Familial diabetes
- Neonatal diabetes
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Monogenic hearing loss
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
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)SLC19A2 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC19A2 was created by sleigh