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short QT syndrome type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short QT syndrome type 2

MONDO:0012313

Also known as:KCNQ1 short QT syndromeshort QT syndrome caused by mutation in KCNQ1SQT2

Overview

Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.

GeneticsAutosomal dominant · KCNQ1 (chr 11)

Clinical Presentation

Features include sometimes findings: Ventricular fibrillation. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Ventricular fibrillation, Bradycardia, Atrial fibrillation

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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.

KCNQ1 encodes potassium voltage-gated channel subfamily Q member 1 (676 aa). Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon. Highest expression in Adrenal Gland (207.0 TPM) and Stomach (97.9 TPM).

Short QT syndrome type 2 is associated with mutations in the KCNQ1 gene on chromosome 11.

The KCNQ1 protein participates in Activation of voltage gated Potassium channels, Phase 2 - plateau phase, and Phase 3 - rapid repolarisation pathways.

KCNQ1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 1.5.

Diagnosis

Genetic testing for KCNQ1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short QT syndrome type 2 has been reported in the published literature.

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 short QT syndrome type 2.

16 publications have been identified in PubMed for short QT syndrome type 2. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	5	31%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609621

GARD

Genetic and Rare Diseases Info Center

GARD:18634

Questions for Your Care Team

→Should I pursue genetic testing for KCNQ1, 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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short QT syndrome type 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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