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CASQ2

—Calsequestrin 2

Chromosome: 1

Location: 1:115697988-115837921

OMIM: 114251

Ensembl: ENSG00000118729

Official·OMIM:114251 Official·ENSG00000118729

Encodes cardiac calsequestrin protein. Mutations cause CPVT type 2.

Treatment Roadmap — CASQ2

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Catecholaminergic Polymorphic Ventricular Tachycardia

Autosomal RecessivePrevalence: 1/10000cardiac

Official·OMIM:604772 Official·ORPHA3286

Summary

Clinical Trial

Approved Therapy

Registered Variant