Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Likely inborn error of metabolism v1.76 CARS2 Sarah Leigh Source Expert Review Green was added to CARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2
Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v0.4 CARS2 Ellen McDonagh gene: CARS2 was added
gene: CARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype