Renal Tubulopathies and related disorders
Gene: KCNJ1

KCNJ1 (potassium voltage-gated channel subfamily J member 1)
EnsemblGeneIds (GRCh38): ENSG00000151704
EnsemblGeneIds (GRCh37): ENSG00000151704
OMIM: 600359, Gene2Phenotype
KCNJ1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported. Prenatal presentation common. Supportive functional data including mouse model.
Created: 16 Jun 2022, 9:17 p.m. | Last Modified: 16 Jun 2022, 9:17 p.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 2, MIM#241200

Publications

Created: 16 Jun 2022, 9:17 p.m.
Last Modified: 16 Jun 2022, 9:17 p.m.
Panel version: Imported from Bartter Syndrome panel version 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Bartter syndrome, type 2, MIM#241200

OMIM

600359

Clinvar variants

Variants in KCNJ1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ1 was added gene: KCNJ1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ1 were set to 19096086; 12086641; 8841184; 9580661; 12122007; 7635463 Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, MIM#241200

Renal Tubulopathies and related disorders Gene: KCNJ1