Hypertension and Aldosterone disorders
Gene: KLHL3

KLHL3 (kelch like family member 3)
EnsemblGeneIds (GRCh38): ENSG00000146021
EnsemblGeneIds (GRCh37): ENSG00000146021
OMIM: 605775, Gene2Phenotype
KLHL3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalaemia, and hyperchloraemic metabolic acidosis.

Multiple families reported.
Created: 30 May 2021, 10:50 a.m. | Last Modified: 30 May 2021, 10:50 a.m.

Panel Version: 0.39

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Pseudohypoaldosteronism, type IID, MIM# 614495

Publications

Created: 30 May 2021, 10:50 a.m.
Last Modified: 30 May 2021, 10:50 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Pseudohypoaldosteronism, type IID, MIM# 614495

OMIM

605775

Clinvar variants

Variants in KLHL3

Penetrance

None

Publications

Panels with this gene