Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Renal tubulopathies v4.17 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Renal tubulopathies v4.15 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800 to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Renal tubulopathies v4.14 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Renal tubulopathies v4.14 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to
Renal tubulopathies v4.13 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Renal tubulopathies v4.13 SLC12A3 Sarah Leigh commented on gene: SLC12A3
Renal tubulopathies v1.58 SLC12A3 Eleanor Williams Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria to Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800
Renal tubulopathies v1.16 SLC12A3 Eleanor Williams reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gitelman syndrome, MIM 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal tubulopathies v1.15 SLC12A3 Eleanor Williams Source NHS GMS was added to SLC12A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)