1. Panels
  2. Nephrocalcinosis or nephrolithiasis
  3. KCNJ1
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Nephrocalcinosis or nephrolithiasis

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 4 panels

2 reviews

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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Originally an amber gene, promoted to green due to expert review and multiple reports in OMIM.
Created: 9 May 2016, 12:33 p.m.
Created: 9 May 2016, 12:33 p.m.

Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
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
OMIM
600359
Clinvar variants
Variants in KCNJ1
Penetrance
Complete
Panels with this gene

History Filter Activity

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KCNJ1 were set to

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KCNJ1 were set to Antenatal Bartter Syndrome; Bartter syndrome, type 2, 241200; Type 2 Bartter syndrome; often initial transient hyperkalemia

7 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

KCNJ1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

KCNJ1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KCNJ1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services