Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Arthrogryposis v0.673 SVIL Zornitza Stark Marked gene: SVIL as ready
Arthrogryposis v0.673 SVIL Zornitza Stark Gene: svil has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.673 Zornitza Stark Copied gene SVIL from panel Mendeliome
Arthrogryposis v0.673 SVIL Zornitza Stark gene: SVIL was added
gene: SVIL was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVIL were set to 32779703
Phenotypes for gene: SVIL were set to Myofibrillar myopathy, MIM#619040
Penetrance for gene: SVIL were set to unknown