Genomics England

potassium voltage-gated channel subfamily J member 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bartter syndrome 241200
Green in Nephrocalcinosis or nephrolithiasis R-numbers: R256 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Antenatal Bartter Syndrome, Bartter syndrome, type 2, 241200, Type 2 Bartter syndrome, often initial transient hyperkalemia
Green in Renal tubulopathies R-numbers: R198 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypokalaemic alkalosis with hypercalciuria, Type 2 Bartter syndrome, often initial transient hyperkalemia, Bartter syndrome, type 2, 241200
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes often initial transient hyperkalemia, Antenatal Bartter Syndrome, Bartter syndrome, type 2, 241200, Type 2 Bartter syndrome