Renal Tubulopathies and related disorders
Gene: CACNA1D

CACNA1D (calcium voltage-gated channel subunit alpha1 D)
EnsemblGeneIds (GRCh38): ENSG00000157388
EnsemblGeneIds (GRCh37): ENSG00000157388
OMIM: 114206, Gene2Phenotype
CACNA1D is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.

Note bi-allelic variants cause a different phenotype.
Created: 30 May 2021, 9:07 a.m. | Last Modified: 30 May 2021, 9:07 a.m.

Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200

Publications

Created: 30 May 2021, 9:07 a.m.
Last Modified: 30 May 2021, 9:07 a.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0
Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

MONDO:0014200
Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474

OMIM

114206

Clinvar variants

Variants in CACNA1D

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: CACNA1D was added gene: CACNA1D was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1D were set to 23913001; 32336187; 30698561 Phenotypes for gene: CACNA1D were set to MONDO:0014200; Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474

Renal Tubulopathies and related disorders Gene: CACNA1D