Neonatal diabetes
Gene: SLC19A2EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Thiamine-responsive megaloblastic anemia syndrome, 249270;neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA);permanent neonatal diabetes (PNDM);Thiamine responsive megaloblastic anaemia;neonatal diabetesCreated: 3 Mar 2021, 2:38 p.m. | Last Modified: 3 Mar 2021, 2:38 p.m.
Panel Version: 2.27
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: SLC19A2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Thiamine responsive megaloblastic anaemia; neonatal diabetes.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as Ready: April 25th 2017.Created: 25 Apr 2017, 2:33 p.m.
PMID:22369132 (Shaw-Smith et al., 2012) report 3 patients presenting with TRMA and neonatal diabetes diagnosed in the first 6 months of life, with homozygous SLC19A2 mutations.Created: 25 Apr 2017, 1:09 p.m.
TRMA (Thiamine-responsive megaloblastic anemia syndrome, MIM:249270) is associated with deafness and diabetes. Olsen et al., 2007 (PMID:17659067) report a TRMA patient where non0-mmune diabetes was diagnosed at 8 weeks. Mandel et al., 1984 (PMID:6472386) also report a case of TRMA in which diabetes presented in the neonatal period (reviewed by PMID:22369132/Shaw-Smith et al 2012). Therefore Shaw-Smith et al conclude that TRMA should be considered in the differential diagnosis of diabetes presenting in the neonatal period.Created: 25 Apr 2017, 1:09 p.m.
Comment on list classification: Updated rating from Red to Green: green expert review plus >3 unrelated cases of SLC19A2 mutations in patients presenting with TRMA and neonatal diabetes (see PMID:22369132 for 3 cases and overview). Plus part of Exeter neonatal diabetes screen.Created: 25 Apr 2017, 1:05 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by literature (PMID:22369132 and 17659067).Created: 25 Apr 2017, 1:04 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
- OMIM
- 603941
- Clinvar variants
- Variants in SLC19A2
- Penetrance
- Complete
- Publications
- Panels with this gene
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- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM) to Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SLC19A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM)
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM)
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for SLC19A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for SLC19A2 were set to 22369132; 17659067
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC19A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLC19A2 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN