Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

long QT syndrome 12 (LQT12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 12

MONDO:0013062

Also known as:LQT12SNTA1 long QT syndromelong QT syndrome caused by mutation in SNTA1

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.

GeneticsAutosomal dominant · SNTA1 (chr 20)

Clinical Presentation

Features include always present findings: Prolonged QTc interval and Syncope. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Ventricular fibrillation

Explore clinical features

Genetic Landscape

SNTA1 function has not been fully characterized.

Long QT syndrome 12 is associated with mutations in the SNTA1 gene on chromosome 20.

Diagnosis

Genetic testing for SNTA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for long QT syndrome 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 12.

40 publications have been identified in PubMed for long QT syndrome 12. Research spans Case Report / Case Series (28%), Epidemiology / Natural History (28%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	11	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612955

GARD

Genetic and Rare Diseases Info Center

GARD:15595

Questions for Your Care Team

→Should I pursue genetic testing for SNTA1, 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?

← Back to All Diseases

long QT syndrome 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications