KCNQ1 Chromosome 11
Potassium voltage-gated channel subfamily Q member 1
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What This Gene Does
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
11p15.5-p15.4
Ensembl
ENSG00000053918
Associated Conditions (35)
Long QT syndrome
Atrial fibrillation
familial
3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Cardiovascular phenotype
Cardiac arrhythmia
KCNQ1-related disorder
Congenital long QT syndrome
Beckwith-Wiedemann syndrome
Cardiomyopathy
Acquired susceptibility to long QT syndrome 1
SUDDEN INFANT DEATH SYNDROME
Wolff-Parkinson-White pattern
Paroxysmal atrial fibrillation
Hearing impairment
Nonpapillary renal cell carcinoma
Inborn genetic diseases
+15 more conditions
Key Variants
RS1001293702
Conflicting classifications of pathogenicity
Long QT syndrome, Atrial fibrillation, familial
Health Risk
RS1025802726
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1064796353
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1085307965
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS112113213
Conflicting classifications of pathogenicity
Long QT syndrome, Atrial fibrillation, familial
Health Risk
RS1131691513
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS11601907
Conflicting classifications of pathogenicity
Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome
Health Risk
RS120074186
Conflicting classifications of pathogenicity
Jervell and Lange-Nielsen syndrome 1, Congenital long QT syndrome, Cardiovascular phenotype
Health Risk
RS120074187
Conflicting classifications of pathogenicity
Long QT syndrome 1, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1212611138
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiac arrhythmia, Cardiovascular phenotype
Health Risk
RS1245995530
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiac arrhythmia, Long QT syndrome
Health Risk
RS1263583359
Conflicting classifications of pathogenicity
Short QT syndrome type 2, Cardiac arrhythmia, Short QT syndrome type 2
Health Risk
All Variants (558)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794728557 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS794728562 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome, Congenital long QT syndrome, Cardiovascular phenotype |
| RS794728565 | Health Risk | Pathogenic/Likely pathogenic | Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Long QT syndrome |
| RS794728566 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 1, Long QT syndrome 1 |
| RS794728568 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 1, Long QT syndrome, Congenital long QT syndrome |
| RS794728580 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 1, Long QT syndrome, Cardiovascular phenotype |
| RS878854350 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome 1, Long QT syndrome, Cardiovascular phenotype |
| RS915283074 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome, Congenital long QT syndrome, Long QT syndrome |