Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Groopman et al 2019 - Genes with diagnostic variants v0.4 TRPC6 Eleanor Williams reviewed gene: TRPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 TRPC6 Eleanor Williams Source Expert Review Green was added to TRPC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.2 TRPC6 Eleanor Williams gene: TRPC6 was added
gene: TRPC6 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: TRPC6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPC6 were set to MIM 603965; Nephropathy of unknown origin; Glomerulopathy; Glomerulosclerosis focal segmental 2