| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pyruvate dehydrogenase (PDH) deficiency v0.5 | PDPR | Ellen McDonagh Marked gene: PDPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.5 | PDPR | Ellen McDonagh Gene: pdpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.4 | PDPR | Ellen McDonagh commented on gene: PDPR: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | PDPR | Ivone Leong reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | PDPR |
Ivone Leong 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 |
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