Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Possible mitochondrial disorder - nuclear genes v0.5 SLC52A2 Ivone Leong reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 SLC52A2 Ivone Leong gene: SLC52A2 was added
gene: SLC52A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707