Proteinuric renal disease
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: SLC19A2; Suggested initial gene rating: red; Evidence for inclusion: none provided; Other comments: Unaware of phenotype association with this geneCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thiamine-responsive megaloblastic anemia syndrome #249270
Ellen Thomas (Genomics England Curator)
Comment on list classification: Not associated with proteinuric renal diseaseCreated: 12 Apr 2016, 10:46 a.m.
Maggie Williams (North Bristol NHS Trust)
phenotype does not fitCreated: 19 Oct 2015, 1:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- 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 hearing loss
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SLC19A2.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Proteinuric renal diseasepanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Proteinuric renal diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Proteinuric renal diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen