Gene Information
potassium voltage-gated channel subfamily Q member 1 [Source:HGNC Symbol;Acc:HGNC:6294]
KCNQ1 variants are associated with 4 diseases including familial long QT syndrome and familial atrial fibrillation and 2 others, with 69 documented clinical phenotypes.
The KCNQ1 gene is associated with 4 medical conditions, including:
Research has identified 69 phenotypic features associated with KCNQ1 variants:
Juvenile onset
HP:0003621
Ventricular fibrillation
HP:0001663
Renal cortical cysts
HP:0000803
Prolonged QT interval
HP:0001657
Prolonged QT interval
HP:0001657
Dandy-Walker malformation
HP:0001305
Prominent occiput
HP:0000269
Sudden cardiac death
HP:0001645
Thromboembolic stroke
HP:0001727
Nephrocalcinosis
HP:0000121
Prominent metopic ridge
HP:0005487
Childhood onset
HP:0011463
Adrenocortical cytomegaly
HP:0008186
Atrial fibrillation
HP:0005110
Prolonged QTc interval
HP:0005184
ClinVar contains 10 variants associated with KCNQ1. Below are some notable variants:
NM_000218.3(KCNQ1):c.872del (p.Glu290_Ser291insTer)
Likely pathogenicVCV004278376
Review: criteria provided, single submitter
NM_000218.3(KCNQ1):c.1515-2_1519del
Likely pathogenicVCV004090692
Review: criteria provided, single submitter
NM_000218.3(KCNQ1):c.1764_1765insA (p.Gly589fs)
Likely pathogenicVCV004084700
Review: criteria provided, single submitter
NM_000218.3(KCNQ1):c.1744_1754del (p.Asp582fs)
Likely pathogenicVCV004084699
Review: criteria provided, single submitter
NM_000218.3(KCNQ1):c.658C>T (p.Gln220Ter)
Likely pathogenicVCV004081467
Review: criteria provided, single submitter
There are 657 publications about KCNQ1 indexed in PubMed. Below are some recent papers:
Wnt pathway activation unlocks disease-neutral proliferative potential in human iPSC-derived cardiomyocytes: A comparative study across healthy and inherited cardiac disease models.
Zhou Y, Huang W, Wang J
PMID: 41242031
•
2025 Nov 10
•
Tissue Cell
mLeveraging genetic correlations to prioritize drug groups for repurposing in type 2 diabetes.
Hjelholt AJ, Gholipourshahraki T, Bai Z
PMID: 41224746
•
2025 Nov 12
•
Pharmacogenomics J
TMC4 localizes to multiple taste cell types in the mouse taste papillae.
Murata M, Saito Y, Kasahara Y
PMID: 41220202
•
2025 Nov 11
•
FEBS Open Bio
Attitudes toward returning pathogenic KCNQ1 variant and uptake of cascade screening in the Amish.
Streeten EA, Guan Y, Ryan KA
PMID: 41210375
•
2025
•
Genet Med Open
Cardiac Channelopathies in the Pediatric Patient: Short QT Syndrome.
Tan RB, Shah MJ
PMID: 41206177
•
2025 Dec
•
Card Electrophysiol Clin
Get instant, comprehensive insights on KCNQ1 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025