DEMO Diabetes neonatal onset
Gene: SLC19A2
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.
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.
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.
gene: SLC19A2 was added gene: SLC19A2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to 22369132; 17659067 Phenotypes for gene: SLC19A2 were set to Thiamine responsive megaloblastic anaemia; Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); neonatal diabetes