Extreme early-onset hypertension

Gene: KCNJ5

Green List (high evidence)

KCNJ5 (potassium voltage-gated channel subfamily J member 5)
EnsemblGeneIds (GRCh38): ENSG00000120457
EnsemblGeneIds (GRCh37): ENSG00000120457
OMIM: 600734, Gene2Phenotype
KCNJ5 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with this phenotype in OMIM, numerous variants reported.
Created: 25 Jul 2016, 4:49 p.m.
Comment on phenotypes: Variants also reported in Long QT syndrome 13 613485, but not relevant to this panel
Created: 25 Jul 2016, 4:48 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Hyperaldosteronism, familial, type III 613677
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Jul 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KCNJ5 were set to Hyperaldosteronism, familial, type III 613677

25 Jul 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for KCNJ5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

KCNJ5 was added to Extreme early-onset hypertensionpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

KCNJ5 was added to Extreme early-onset hypertensionpanel. Sources: Expert