Genomics England
GMS Panels
Panels
Genes and Entities

KCNJ1

potassium voltage-gated channel subfamily J member 1
OMIM: 600359
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
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