long QT syndrome 1
MONDO:0100316Mondo
Findings
No curated finding names long QT syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- SyncopeHPOHP:0001279
- 6 of 9 reported patients
- Prolonged QTc intervalHPOHP:0005184
- 5 of 9 reported patients
- Ventricular fibrillationHPOHP:0001663
- 1 of 3 reported patients
- Sudden cardiac deathHPOHP:0001645
- 1 of 6 reported patients
- Torsade de pointesHPOHP:0001664
- 1 of 6 reported patients
- Hearing abnormalityHPOHP:0000364
- 0 of 6 reported patients
- Prolonged QT intervalHPOHP:0001657
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNQ1HGNC:6294
- Definitive · G2P · Autosomal dominant · 2024
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: long QT syndrome 1
- Also called
- long QT syndrome type 1LQT1ventricular fibrillation with prolonged QT interval