Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Haematuria v1.28 NPHS2 Eleanor Williams Phenotypes for gene: NPHS2 were changed from Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2 to Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2; ?Modifier of COL4A variants
Haematuria v1.27 NPHS2 Eleanor Williams Publications for gene: NPHS2 were set to
Haematuria v1.18 NPHS2 Anna de Burca reviewed gene: NPHS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematuria v1.18 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26138234; Phenotypes: ?Modifier of COL4A variants; Mode of inheritance: Unknown; Current diagnostic: yes
Haematuria v1.17 NPHS2 Eleanor Williams Source NHS GMS was added to NPHS2.