long QT syndrome 12
MONDO:0013062Mondo
Findings
No curated finding names long QT syndrome 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013062), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient
- SyncopeHPOHP:0001279
- 1 of 1 reported patient
- Torsade de pointesHPOHP:0001664
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.
- SNTA1HGNC:11167
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: long QT syndrome 12
- Also called
- long QT syndrome caused by mutation in SNTA1long QT syndrome type 12LQT12SNTA1 long QT syndrome