Jervell and Lange-Nielsen syndrome 2
Findings
No curated finding names Jervell and Lange-Nielsen syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012871), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 1 of 1 reported patient
- Premature ventricular contractionHPOHP:0006682
- 1 of 1 reported patient
- Prolonged QT intervalHPOHP:0001657
- 1 of 1 reported patient
- SyncopeHPOHP:0001279
- 1 of 1 reported patient
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.
- KCNE1HGNC:6240
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: Jervell and Lange-Nielsen syndrome 2
- Also called
- Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1Jervell and Lange-Nielsen syndrome type 2KCNE1 Jervell and Lange-Nielsen syndrome