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long QT syndrome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 6

MONDO:0013370

Also known as:KCNE2 long QT syndromeLQT6long QT syndrome caused by mutation in KCNE2

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.

GeneticsAutosomal dominant · KCNE2 (chr 21)

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; and common findings: Ventricular fibrillation, Cardiac arrest, and Torsade de pointes. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Ventricular fibrillation, Cardiac arrest, Sudden cardiac death

Explore clinical features

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.

KCNE2 encodes potassium voltage-gated channel subfamily E regulatory subunit 2 (123 aa). Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. Highest expression in Stomach (306.8 TPM) and Testis (5.9 TPM).

Long QT syndrome 6 is associated with mutations in the KCNE2 gene on chromosome 21.

KCNE2 is classified as a druggable target (Cell Surface and Ion Channel categories) with score 4.0.

Diagnosis

Genetic testing for KCNE2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for long QT syndrome 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 6.

49 publications have been identified in PubMed for long QT syndrome 6. Research spans Epidemiology / Natural History (24%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	12	24%

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:613693

GARD

Genetic and Rare Diseases Info Center

GARD:10434

Questions for Your Care Team

→Should I pursue genetic testing for KCNE2, 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 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

SGK1-inhibition restores cardiac repolarization in LQT2 rabbits and LQT3 mice by reducing late sodium current.

long QT syndrome 6

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

Latest News & Developments

SGK1-inhibition restores cardiac repolarization in LQT2 rabbits and LQT3 mice by reducing late sodium current.