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Primary hyperaldosteronism - KCNJ5

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #613677) and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 11:46 a.m. | Last Modified: 29 Dec 2025, 11:46 a.m.
Panel Version: 1.2
KCNJ5 has been added to the panel for R344 Primary hyperaldosteronism - KCNJ5 with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:25 p.m. | Last Modified: 30 Jun 2023, 3:25 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 30 Jun 2023, 3:25 p.m.
Last Modified: 30 Jun 2023, 3:25 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperaldosteronism, familial, type III, OMIM:613677
  • familial hyperaldosteronism type III, MONDO:0013359
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, OMIM:613677; familial hyperaldosteronism type III, MONDO:0013359

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KCNJ5 was added gene: KCNJ5 was added to Primary hyperaldosteronism - KCNJ5. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown