This Panel is marked as Internal
Renal and urinary tract disorders
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- 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
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Rare anaemia
- Cytopenias and congenital anaemias
- Neonatal diabetes
- Monogenic diabetes
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Unexplained kidney failure in young people
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Pyruvate dehydrogenase (PDH) deficiency
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC19A2 was added gene: SLC19A2 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-Responsive Megaloblastic Anemia; Thiamine-responsive megaloblastic anemia syndrome, 249270; (originally on the Imerslund-Grasbeck syndrome gene panel)