Pyruvate dehydrogenase (PDH) deficiency
Gene: SLC19A2
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SCL19A2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 11:45 a.m.
Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
gene: SLC19A2 was added gene: SLC19A2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270