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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) |
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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) |
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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) |
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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 |
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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 |
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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 |