Renal Tubulopathies and related disorders
Gene: CLCN2
Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.
At least 6 unrelated families reported.
Note bi-allelic variants cause a different phenotype.Created: 30 May 2021, 9:13 a.m. | Last Modified: 30 May 2021, 9:14 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperaldosteronism, familial, type II 605635
Publications
gene: CLCN2 was added gene: CLCN2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLCN2 were set to 29403012; 29403011 Phenotypes for gene: CLCN2 were set to Hyperaldosteronism, familial, type II 605635