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 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome 241200
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
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
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypokalaemic alkalosis with hypercalciuria, Type 2 Bartter syndrome, often initial transient hyperkalemia, Bartter syndrome, type 2, 241200