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Mendeliome

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 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with hyperaldosteronism: At least 5 unrelated families reported.

Association with Long QT: disputed.
Sources: Expert Review
Created: 30 May 2021, 10:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperaldosteronism, familial, type III, MIM# 613677

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperaldosteronism, familial, type III, MIM# 613677
OMIM
600734
Clinvar variants
Variants in KCNJ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj5 has been classified as Green List (High Evidence).

30 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj5 has been classified as Green List (High Evidence).

30 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ5 was added gene: KCNJ5 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ5 were set to 21311022; 22203740; 24420545; 24574546 Phenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677 Review for gene: KCNJ5 was set to GREEN