Unexplained young onset end-stage renal disease
Gene: KCNJ1
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 2:13 p.m. | Last Modified: 2 May 2024, 2:13 p.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been added with green rating to R257 Unexplained young onset end-stage renal disease panel as it has already been rated green in R256 Nephrocalcinosis or nephrolithiasis (https://panelapp.genomicsengland.co.uk/panels/149/) and R198 Renal tubulopathies (https://panelapp.genomicsengland.co.uk/panels/292/) panels.Created: 11 Jan 2024, 10:04 a.m. | Last Modified: 11 Jan 2024, 10:04 a.m.
Panel Version: 3.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
often initial transient hyperkalemia; Antenatal Bartter Syndrome; Type 2 Bartter syndrome; Bartter syndrome, type 2, 241200
Tag Q4_23_promote_green was removed from gene: KCNJ1.
Source Expert Review Green was added to KCNJ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: KCNJ1.
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