long QT syndrome 8
MONDO:0032756Mondo
Findings
No curated finding names long QT syndrome 8 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
- Adult onset · Juvenile onset
HPO, annotations 2026-09-02
Features
9 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.
- Prolonged QTc intervalHPOHP:0005184
- 15 of 15 reported patients
- SyncopeHPOHP:0001279
- 4 of 15 reported patients
- Ventricular fibrillationHPOHP:0001663
- 1 of 7 reported patients
- Aborted sudden cardiac deathHPOHP:0031628
- 1 of 8 reported patients
- Sinus bradycardiaHPOHP:0001688
- 1 of 8 reported patients
- Sudden cardiac deathHPOHP:0001645
- 1 of 8 reported patients
- ImmunodeficiencyHPOHP:0002721
- 0 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 8 reported patients
- SyndactylyHPOHP:0001159
- 0 of 15 reported patients
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.
- CACNA1CHGNC:1390
- Moderate · Ambry Genetics · Autosomal dominant · 2015