Renal tubulopathies
Gene: KCNJ1

KCNJ1 (potassium voltage-gated channel subfamily J member 1)
EnsemblGeneIds (GRCh38): ENSG00000151704
EnsemblGeneIds (GRCh37): ENSG00000151704
OMIM: 600359, Gene2Phenotype
KCNJ1 is in 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: KCNJ1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bartter syndrome, type 2, MIM 241200

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2019, 11:32 a.m.

Panel version: 1.16

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type 2 Bartter syndrome; often initial transient hyperkalemia

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and in Eligibility statement prior genetic testing
Created: 10 May 2016, 11:05 a.m.

Comment on list classification: ALKALOSIS ?
Created: 10 May 2016, 10:59 a.m.

Created: 10 May 2016, 10:59 a.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

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

OMIM

600359

Clinvar variants

Variants in KCNJ1

Penetrance

Complete

Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: KCNJ1 were changed from Hypokalaemic alkalosis with hypercalciuria; Type 2 Bartter syndrome; often initial transient hyperkalemia to Hypokalaemic alkalosis with hypercalciuria; Type 2 Bartter syndrome; often initial transient hyperkalemia; Bartter syndrome, type 2, 241200

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to KCNJ1. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4