Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ8B Ellen McDonagh Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B
Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ8B Ellen McDonagh gene: COQ8B was added
gene: COQ8B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families).
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9