Pyruvate dehydrogenase (PDH) deficiencyGene: PDPR
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: PDPR; Suggested intial gene rating: Red.
Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
Confirmed in the NHSE GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.
Created: 25 Feb 2019, 3:56 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:15 p.m.
Manuscript is in press (personal communication)
Created: 29 Sep 2015, 7:14 a.m.
Gene: pdpr has been classified as Red List (Low Evidence).
gene: PDPR was added gene: PDPR was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS Mode of inheritance for gene: PDPR was set to Unknown