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Pyruvate dehydrogenase (PDH) deficiency v1.27 | SLC25A26 | Sarah Leigh Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pyruvate dehydrogenase (PDH) deficiency v0.3 | SLC25A26 | Ivone Leong reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pyruvate dehydrogenase (PDH) deficiency v0.2 | SLC25A26 |
Ivone Leong gene: SLC25A26 was added gene: SLC25A26 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 |