Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Possible mitochondrial disorder - nuclear genes v0.5 OPA3 Ivone Leong reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Optic atrophy 3 with cataract, 165300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.3 OPA3 Ivone Leong gene: OPA3 was added
gene: OPA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300