Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Congenital Heart Defect v0.503 COL1A2 Chirag Patel Marked gene: COL1A2 as ready
Congenital Heart Defect v0.503 COL1A2 Chirag Patel Gene: col1a2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.503 COL1A2 Chirag Patel gene: COL1A2 was added
gene: COL1A2 was added to Congenital Heart Defect. Sources: ClinGen
disputed tags were added to gene: COL1A2.
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Congenital heart disease, MONDO:0005453
Review for gene: COL1A2 was set to RED
Added comment: ClinGen DISPUTED - Sep 2024
Sources: ClinGen