Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Possible mitochondrial disorder - nuclear genes v0.5 ACAT1 Ivone Leong reviewed gene: ACAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 ACAT1 Ivone Leong gene: ACAT1 was added
gene: ACAT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750