Hypertension and Aldosterone disorders
Gene: CACNA1H

CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 10 individuals/families with germline variants have been reported in the literature with primary aldosteronism, familial hyperaldosteronism, or aldosterone producing adenoma. 1 individual had dev delay, another had mild ID and learning disabilities. 4 of the variants were confirmed de novo. Inheritance from unaffected parents (incomplete penetrance) has been reported. All reported variants are missense, with variants affected Met1549 being recurrent. Variants have been shown to have a gain-of-function effect on channel activation.
Created: 14 Apr 2021, 7:57 a.m. | Last Modified: 14 Apr 2021, 7:57 a.m.

Panel Version: 0.20

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

Phenotypes
Hyperaldosteronism, familial, type IV MIM#617027

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Apr 2021, 7:57 a.m.
Last Modified: 14 Apr 2021, 7:57 a.m.
Panel version: 0.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Hyperaldosteronism, familial, type IV MIM#617027
MONDO:0014875

OMIM

607904

Clinvar variants

Variants in CACNA1H

Penetrance

None

Publications

Panels with this gene