Renal tubulopathies

Gene: KCNJ1

Green List (high evidence)

KCNJ1 (potassium voltage-gated channel subfamily J member 1)
EnsemblGeneIds (GRCh38): ENSG00000151704
EnsemblGeneIds (GRCh37): ENSG00000151704
OMIM: 600359, Gene2Phenotype
KCNJ1 is in 7 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

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

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.

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

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for KCNJ1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 0

Set Phenotypes

Damian Smedley (Genomics England Curator)

Phenotypes for KCNJ1 were set to Hypokalaemic alkalosis with hypercalciuria; Type 2 Bartter syndrome; often initial transient hyperkalemia

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing