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  3. CACNA1H
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Renal Tubulopathies and related disorders

Gene: CACNA1H

Green List (high evidence)
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: Imported from Hypertension and Aldosterone disorders panel version 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • MONDO:0014875
  • Hyperaldosteronism, familial, type IV MIM#617027
OMIM
607904
Clinvar variants
Variants in CACNA1H
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: CACNA1H was added gene: CACNA1H was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1H were set to 25907736; 31126930; 27729216 Phenotypes for gene: CACNA1H were set to MONDO:0014875; Hyperaldosteronism, familial, type IV MIM#617027