Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mitochondrial disease v0.648 YARS2 Zornitza Stark Marked gene: YARS2 as ready
Mitochondrial disease v0.648 YARS2 Zornitza Stark Gene: yars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.648 YARS2 Zornitza Stark Phenotypes for gene: YARS2 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity
Mitochondrial disease v0.647 YARS2 Zornitza Stark Publications for gene: YARS2 were set to
Mitochondrial disease v0.646 YARS2 Zornitza Stark Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.645 YARS2 Zornitza Stark reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573, 24344687; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561, sideroblastic anaemia, muscle atrophy, myopathy, lactic acidosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: YARS2 was set to Unknown