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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