Non-Fanconi anaemia
Gene: SLC19A2Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 1:55 p.m.
Comment on list classification: Updated rating from Amber to Green: Green review plus >3 unrelated cases of SLC19A2 variants causing megaloblastic anemia. Already rated Green on the 'Cytopaenias and congenital anaemias' panel.Created: 4 May 2017, 1:54 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM.Created: 4 May 2017, 1:51 p.m.
This gene has been classified as Green List (High Evidence).
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, 249270
Publications for SLC19A2 were set to 10978358; 10391223; 11380424; 10874303
Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
SLC19A2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
SLC19A2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
SLC19A2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
SLC19A2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SLC19A2 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC19A2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SLC19A2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen