GENE REFERENCE / HGNC:6294

KCNQ1

potassium voltage-gated channel subfamily Q member 1

protein-coding gene11p15.5-p15.4Gene information

What does this gene do?

The KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with KCNQ1 proteins are primarily found in the inner ear and in heart (cardiac) muscle. In the inner ear, these channels help maintain the proper ion balance needed for normal hearing. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNQ1 protein is also produced in the kidney, lung, stomach, and intestine.

The KCNQ1 protein interacts with proteins in the KCNE family (such as the KCNE1 protein) to form functional potassium channels. Four alpha subunits made from KCNQ1 proteins form the structure of each channel. One beta subunit, made from a KCNE protein, attaches (binds) to the channel and regulates its activity.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Jervell and Lange-Nielsen syndromeMONDO:0002441 · Evaluated 2017-12-19	Autosomal recessive	DefinitiveHearing Loss Gene Curation Expert Panel
short QT syndromeMONDO:0000453 · Evaluated 2020-10-27	Autosomal dominant	StrongShort QT syndrome Gene Curation Expert Panel
hypertrophic cardiomyopathyMONDO:0005045 · Evaluated 2022-05-09	Autosomal dominant	DisputedHereditary Cardiovascular Disease Gene Curation Expert Panel
long QT syndromeMONDO:0002442 · Evaluated 2018-09-25	Autosomal dominant	DefinitiveLong QT syndrome Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 3,242
Submissions for variants in or overlapping this gene: 7,841
Submissions explicitly reporting this gene: 7,168
Alleles reported pathogenic / likely pathogenic: 610
VariationIDs with uncertain significance: 850
VariationIDs with conflicting classifications: 217

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about KCNQ1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 610 alleles in KCNQ1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in KCNQ1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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