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  2. Renal Tubulopathies and related disorders
  3. KLHL3
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Renal Tubulopathies and related disorders

Gene: KLHL3

Green List (high evidence)
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: Imported from Hypertension and Aldosterone disorders panel version 0.39

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • 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

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KLHL3 was added gene: KLHL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KLHL3 were set to 24821705; 34022862; 22406640; 22266938; 32462939 Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495