Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Unexplained young onset end-stage renal disease v4.3 CYP24A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CYP24A1.
Unexplained young onset end-stage renal disease v4.3 CYP24A1 Arina Puzriakova reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.2 CYP24A1 Achchuthan Shanmugasundram Source Expert Review Green was added to CYP24A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v3.21 CYP24A1 Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile hypercalcaemia, Hypercalcemia, infantile, 143880, Infantile Hypercalcemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.18 CYP24A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CYP24A1.
Unexplained young onset end-stage renal disease v3.17 CYP24A1 Achchuthan Shanmugasundram gene: CYP24A1 was added
gene: CYP24A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP24A1 were set to Infantile hypercalcaemia; Infantile Hypercalcemia; Hypercalcemia, infantile, 143880