Jervell and Lange-Nielsen syndrome: genes and variants
Jervell and Lange-Nielsen syndrome is linked to 1 analyzed protein (KCNQ1). 4 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Jervell and Lange-Nielsen syndrome 1
Genes linked to Jervell and Lange-Nielsen syndrome
KCNQ1: Potassium voltage-gated channel subfamily KQT member 1
The protein forms the pore of a voltage-gated potassium channel that helps set electrical activity in heart muscle. Its partnerships with KCNE subunits also support normal function in the inner ear and other tissues, while KCNQ1 variants are linked to long-QT and short-QT syndromes.
4 disease-causing and 12 uncertain variants in KCNQ1 are linked to Jervell and Lange-Nielsen syndrome.
Known disease-causing variants in Jervell and Lange-Nielsen syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KCNQ1 D202N | 202 | Segment S3 | Disease-causing (★★) |
| KCNQ1 R243H | 243 | Interaction with KCNE3 | Disease-causing (★★) |
| KCNQ1 R594Q | 594 | Coiled coil | Disease-causing (★★) |
| KCNQ1 R116H | 116 | Cytoplasmic | Disease-causing (★★) |
Same protein, different disease
- Long QT syndrome is also caused by KCNQ1 variants; they fall mostly in different places as the Jervell and Lange-Nielsen syndrome variants (175 disease-causing).
- Cardiac arrhythmia is also caused by KCNQ1 variants; they fall mostly in different places as the Jervell and Lange-Nielsen syndrome variants (49 disease-causing).
- Atrial fibrillation, familial, 10 is also caused by KCNQ1 variants; they fall mostly in different places as the Jervell and Lange-Nielsen syndrome variants (8 disease-causing).
- Short QT syndrome type 3 is also caused by KCNQ1 variants; they fall mostly in different places as the Jervell and Lange-Nielsen syndrome variants (4 disease-causing).
Diseases related to Jervell and Lange-Nielsen syndrome
- Long QT syndrome, also linked to KCNQ1
- Cardiac arrhythmia, also linked to KCNQ1
- Type 2 diabetes mellitus, also linked to KCNQ1
- Short QT syndrome type 3, also linked to KCNQ1
- Epilepsy, also linked to KCNQ1
- Atrial fibrillation, familial, 10, also linked to KCNQ1
- Monogenic hearing loss, also linked to KCNQ1
- Diabetes mellitus, also linked to KCNQ1
- Beckwith-Wiedemann syndrome, also linked to KCNQ1
Frequently asked questions
Which genes are linked to Jervell and Lange-Nielsen syndrome?
In CATVariant, Jervell and Lange-Nielsen syndrome is linked to 1 analyzed protein: KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1).
How many genetic variants are linked to Jervell and Lange-Nielsen syndrome?
23 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Jervell and Lange-Nielsen syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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