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Molecular autopsy

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 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 16 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 13 (613485); Hyperaldosteronism, familial, type III (613677)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Hyperaldosteronism, familial, type III (613677)
  • Long QT syndrome 13 (613485)
  • Long QT syndrome 13
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to KCNJ5.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to KCNJ5. Added phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5 Publications for gene KCNJ5 were changed from to 19716085; 30420954; 19862833; 16301704

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KCNJ5 was added gene: KCNJ5 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ5 were set to Long QT syndrome 13