Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Congenital Heart Defect v0.479 PCSK5 Chirag Patel Marked gene: PCSK5 as ready
Congenital Heart Defect v0.479 PCSK5 Chirag Patel Gene: pcsk5 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.479 PCSK5 Chirag Patel gene: PCSK5 was added
gene: PCSK5 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: PCSK5.
Mode of inheritance for gene: PCSK5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK5 were set to Syndromic congenital heart disease, MONDO:0100614
Review for gene: PCSK5 was set to RED
Added comment: ClinGen DISPUTED - Apr 2025
Sources: ClinGen