Features include common findings: Ventricular fibrillation, Prolonged QTc interval, and Syncope; and sometimes findings: Torsade de pointes and Sudden cardiac death. 7 total HPO annotations.

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).

Long QT syndrome 1 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.

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

Biomarker and diagnostic research for long QT syndrome 1 has been reported in the published literature.

Phenotype severity distribution: 3 common features.

No clinical trials have been registered for long QT syndrome 1.

73 publications have been identified in PubMed for long QT syndrome 1. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (15%).