Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050