Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Groopman et al 2019 - Genes with diagnostic variants v0.4 HNF1A Eleanor Williams reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 HNF1A Eleanor Williams Source Expert Review Green was added to HNF1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.2 HNF1A Eleanor Williams gene: HNF1A was added
gene: HNF1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1A were set to MODY type III; Nephropathy of unknown origin; Diabetic nephropathy; MIM 600496