Pyruvate dehydrogenase (PDH) deficiencyGene: PDP2
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: PDR2; Suggested intial gene rating: Red.
Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
Variants in this GENE are reported as part of current diagnostic practice
no mutation reports in literature; good candidate gene for pyruvate dehydrogenase deficiency
Created: 6 Feb 2016, 11:40 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:14 p.m.
Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169
gene: PDP2 was added gene: PDP2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS Mode of inheritance for gene: PDP2 was set to Unknown