Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A12 Ivone Leong reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 39, 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A12 Ivone Leong gene: SLC25A12 was added
gene: SLC25A12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Epileptic encephalopathy, early infantile, 39, 612949