Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Unexplained young onset end-stage renal disease v4.3 CLDN16 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CLDN16.
Unexplained young onset end-stage renal disease v4.3 CLDN16 Arina Puzriakova reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.2 CLDN16 Achchuthan Shanmugasundram Source Expert Review Green was added to CLDN16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v3.21 CLDN16 Achchuthan Shanmugasundram reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 3, renal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.18 CLDN16 Achchuthan Shanmugasundram Phenotypes for gene: CLDN16 were changed from Hypomagnesemia 3, renal 248250; Hypomagnesemia 3, renal to Hypomagnesemia 3, renal, OMIM: 248250
Unexplained young onset end-stage renal disease v3.17 CLDN16 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN16.
Unexplained young onset end-stage renal disease v3.17 CLDN16 Achchuthan Shanmugasundram Added phenotypes Hypomagnesemia 3, renal 248250 for gene: CLDN16
Unexplained young onset end-stage renal disease v3.17 CLDN16 Achchuthan Shanmugasundram gene: CLDN16 was added
gene: CLDN16 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN16 were set to Hypomagnesemia 3, renal