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Unexplained young onset end-stage renal disease v4.3 KCNJ16 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KCNJ16.
Unexplained young onset end-stage renal disease v4.3 KCNJ10 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KCNJ10.
Unexplained young onset end-stage renal disease v4.3 KCNJ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KCNJ1.
Unexplained young onset end-stage renal disease v4.3 KCNJ16 Arina Puzriakova reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.3 KCNJ10 Arina Puzriakova reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.3 KCNJ1 Arina Puzriakova reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.2 KCNJ16 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v4.2 KCNJ10 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v4.2 KCNJ1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v3.21 KCNJ16 Achchuthan Shanmugasundram reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypokalemic tubulopathy and deafness, OMIM:619406; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 KCNJ10 Achchuthan Shanmugasundram reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SESAME/EAST syndrome, 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 KCNJ1 Achchuthan Shanmugasundram reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: often initial transient hyperkalemia, Antenatal Bartter Syndrome, Type 2 Bartter syndrome, Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.18 KCNJ16 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KCNJ16.
Unexplained young onset end-stage renal disease v3.18 KCNJ10 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KCNJ10.
Unexplained young onset end-stage renal disease v3.18 KCNJ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KCNJ1.
Unexplained young onset end-stage renal disease v3.17 KCNJ16 Achchuthan Shanmugasundram gene: KCNJ16 was added
gene: KCNJ16 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ16 were set to Hypokalemic tubulopathy and deafness, OMIM:619406
Unexplained young onset end-stage renal disease v3.17 KCNJ10 Achchuthan Shanmugasundram gene: KCNJ10 was added
gene: KCNJ10 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME/EAST syndrome, 612780
Unexplained young onset end-stage renal disease v3.17 KCNJ1 Achchuthan Shanmugasundram gene: KCNJ1 was added
gene: KCNJ1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to often initial transient hyperkalemia; Antenatal Bartter Syndrome; Bartter syndrome, type 2, 241200; Type 2 Bartter syndrome