Monogenic diabetes
Gene: SLC19A2
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Tag curated_removed tag was added to gene: SLC19A2.
Ivone Leong: Gene changed to grey status af
Source Expert Review Removed was added to SLC19A2. Rating Changed from Green List (high evidence) to No List (delete)
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
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