KCNJ1

Green KCNJ1 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Antenatal Bartter Syndrome
• Bartter syndrome, type 2, 241200
• Type 2 Bartter syndrome
• often initial transient hyperkalemia

Green KCNJ1 in Unexplained young onset end-stage renal disease

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• often initial transient hyperkalemia
• Antenatal Bartter Syndrome
• Bartter syndrome, type 2, 241200
• Type 2 Bartter syndrome

Red KCNJ1 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Literature

Phenotypes

• Bartter syndrome, type 2, 241200
• Amelogenesis Imperfecta

Green KCNJ1 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Bartter syndrome 241200

Green KCNJ1 in Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Eligibility statement prior genetic testing

Phenotypes

• Hypokalaemic alkalosis with hypercalciuria
• Type 2 Bartter syndrome
• often initial transient hyperkalemia
• Bartter syndrome, type 2, 241200

Green KCNJ1 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Bartter syndrome, type 2, 241200