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long QT syndrome 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 15

MONDO:0014550

Also known as:CALM2 long QT syndromeLQT15long QT syndrome caused by mutation in CALM2

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.

GeneticsAutosomal dominant · CALM2 (chr 2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Prolonged QTc interval, 2:1 atrioventricular block, and Sinus bradycardia; and very common findings: Syncope. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	9	Ventricular fibrillation, Bradycardia, Cardiac arrest

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CALM2 encodes calmodulin 2 (149 aa). Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Highest expression in Brain Cerebellar Hemisphere (1,497 TPM) and Brain Frontal Cortex BA9 (1,493 TPM).

Long QT syndrome 15 is associated with mutations in the CALM2 gene on chromosome 2.

CALM2 is classified as a druggable target (Druggable Genome, Enzyme, Ion Channel, and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for CALM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for long QT syndrome 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for long QT syndrome 15.

157 publications have been identified in PubMed for long QT syndrome 15. Research spans Epidemiology / Natural History (24%), Basic Science / Preclinical (20%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	38	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616249

GARD

Genetic and Rare Diseases Info Center

GARD:16074

Questions for Your Care Team

→Should I pursue genetic testing for CALM2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

long QT syndrome 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Differential effects of non-selective and cardio-selective beta-blocker therapy on ECG parameters in long QT syndrome type 1.

long QT syndrome 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Differential effects of non-selective and cardio-selective beta-blocker therapy on ECG parameters in long QT syndrome type 1.