Familial 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.
Source: Expert Review Removed was removed from gene: SLC19A2
Phenotypes for SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC19A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Phenotypes for SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome
This gene has been classified as Green List (High Evidence).
Publications for SLC19A2 were set to 26839896; 26549656
This gene has been classified as Green List (High Evidence).
SLC19A2 was added to Familial diabetespanel. Sources: UKGTN