Home > Gene Browser > CACNA1D

CACNA1D

Synonyms
CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
External resources
Summary
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6
Likely pathogenic
0
VUS
13,578
Likely benign
3,828
Benign
4,863

Patient phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on CACNA1D gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the integument
50%
Abnormality of the musculoskeletal system
50%
Abnormality of limbs
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the respiratory system
33.3%
Growth abnormality
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of prenatal development or birth
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the eye
16.7%
Abnormality of the nervous system
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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