Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Proteinuric renal disease v1.178 VPS33B Eleanor Williams Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Proteinuric renal disease v1.177 VPS33B Eleanor Williams Publications for gene: VPS33B were set to
Proteinuric renal disease v1.16 VPS33B Eleanor Williams reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.15 VPS33B Eleanor Williams gene: VPS33B was added
gene: VPS33B was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: VPS33B was set to