ClinGen Dosage Sensitivity Curation Page

CACNA1S

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

CACNA1S encodes for the alpha-1-subunit, L-type of human skeletal muscle dihydropyridine-sensitive, voltage-dependent calcium channel. Mutations in this gene account for approximately 60% of cases of hypokalemic periodic paralysis (HOKPP) which is inherited in an autosomal dominant manner. All reported mutations have been single-nucleotide substitutions. Penetrance is reduced, but mutation-positive males are clinically affected more often than mutation-positive females. Mutations also can be associated with malignant hyperthermia susceptibility (MHS). There is no current evidence for haploinsufficiency as a disease-causing mechanism.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity