Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Groopman et al 2019 - Genes with diagnostic variants v0.4 KANSL1 Eleanor Williams reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 KANSL1 Eleanor Williams Source Expert Review Red was added to KANSL1.
Groopman et al 2019 - Genes with diagnostic variants v0.2 KANSL1 Eleanor Williams gene: KANSL1 was added
gene: KANSL1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome; Congenital or cystic renal disease; MIM 610443