Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Possible mitochondrial disorder - nuclear genes v1.2 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Possible mitochondrial disorder - nuclear genes v1.2 KARS Louise Daugherty commented on gene: KARS
Possible mitochondrial disorder - nuclear genes v0.5 KARS Ivone Leong reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.2 KARS Ivone Leong gene: KARS was added
gene: KARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89 613916; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641