Features include very common findings: Permanent atrial fibrillation; and common findings: Thromboembolic stroke, Prolonged QTc interval, and Paroxysmal atrial fibrillation. 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).

Atrial fibrillation, familial, 3 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 atrial fibrillation, familial, 3 has been reported in the published literature.

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

No clinical trials have been registered for atrial fibrillation, familial, 3.

301 publications have been identified in PubMed for atrial fibrillation, familial, 3. Research spans Clinical Trial Publication (29%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (15%).