KCND3

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the KCND3 gene was identified in a female, age 49, with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures (read full description).

Date of Report

Nov 21, 2016

Full Name

Potassium voltage-gated channel subfamily D member 3

Location

Chromosome 1 (1p13.2)

Function

The KCND3 gene codes for an alpha subunit of a voltage-gated potassium channel (Lee et al., 2012).

Database Links

GeneCards: KCND3

NCBI Gene: 3752

OMIM: 605411

UniProtKB/Swiss-Prot: Q9UK17

Clinical Significance

Changes in this gene have been found in individuals with Brugada syndrome 9 and spinocerebellar ataxia 19.

A change in this gene was also identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene KCND3

Inheritance Pattern Autosomal dominant

Position (hg19) chr1:g.112323335G>A

Transcript NM_004980.4

DNA Change c.1348C>T

Protein Change p.Leu450Phe

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