Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Likely inborn error of metabolism - targeted testing not possible v4.14 MRPS14 Arina Puzriakova Phenotypes for gene: MRPS14 were changed from ?Combined oxidative phosphorylation deficiency 38, 618378 to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Likely inborn error of metabolism - targeted testing not possible v1.406 MRPS14 Catherine Snow commented on gene: MRPS14
Likely inborn error of metabolism - targeted testing not possible v1.406 MRPS14 Catherine Snow gene: MRPS14 was added
gene: MRPS14 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, 618378