Monogenic diabetes
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
4 reviews
Kevin Colclough (Royal Devon & Exeter NHS Healthcare Trust)
Biallelic pathogenic variants in SLC19A2 cause diabetes, thiamine responsive megaloblastic anaemia and sensorineural deafness (PMID: 20301459) and the gene is included as a green gene on the R143 neonatal diabetes panel as patients can present in the neonatal period. Patients can also be diagnosed in childhood. A literature review of 166 patients with biallelic SLC19A2 variants reported a diabetes prevalence of 93% (140 cases), and about half were diagnosed after the age of 12 months (PMID: 33571483). The Exeter laboratory has identified 50 children with SLC19A2 diabetes diagnosed > 9 months ranging from 1 to 14 years at diabetes diagnosis, and these individuals would not be eligible for R143 testing since this is only available to patients diagnosed under the age of 9 months.Created: 12 Mar 2026, 1:02 p.m. | Last Modified: 12 Mar 2026, 1:02 p.m.
Panel Version: 3.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diabetes; megaloblastic anaemia; sensorineural hearing loss; optic atrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and additional evidence on OMIM and from literature search.Created: 15 Jun 2016, 3:16 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Thiamine-responsive megaloblastic anemia syndrome
- MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
- Tags
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Monogenic diabetes
- Unexplained kidney failure in young people
- Rare anaemia
- Familial diabetes
- Likely inborn error of metabolism
- Pyruvate dehydrogenase (PDH) deficiency
- Neonatal diabetes
- Mitochondrial disorders
- Proteinuric renal disease
- Multi-organ autoimmune diabetes
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SLC19A2.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to SLC19A2. Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME for gene: SLC19A2 Publications for gene SLC19A2 were changed from Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 to 26549656; 26839896
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC19A2 was added gene: SLC19A2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME