Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Groopman et al 2019 - Genes with diagnostic variants v0.4 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 NPHP4 Eleanor Williams Source Expert Review Green was added to NPHP4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.2 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephropathy of unknown origin; MIM 606966; Nephronophthisis 4