GENE REFERENCE / HGNC:6231

KCNB1

potassium voltage-gated channel subfamily B member 1

protein-coding gene20q13.13Gene information

What does this gene do?

The KCNB1 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 in and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The KCNB1 gene provides instructions for making one part of a potassium channel called Kv2.1. These channels are found primarily in nerve cells (neurons) in the brain where they transport potassium ions out of neurons. The flow of ions through potassium channels in neurons plays a role in regulating the activity of neurons and sending electrical signals in the brain, allowing communication between these cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2021-03-02. Source review: 2021-03.

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
complex neurodevelopmental disorderMONDO:0100038 · Evaluated 2019-04-16	Autosomal dominant	DefinitiveEpilepsy 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: 909
Submissions for variants in or overlapping this gene: 1,414
Submissions explicitly reporting this gene: 1,380
Alleles reported pathogenic / likely pathogenic: 122
VariationIDs with uncertain significance: 332
VariationIDs with conflicting classifications: 65

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 KCNB1?

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 122 alleles in KCNB1 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 KCNB1.

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

Buy BioDecode See a sample report →Check file compatibility →