KCNH3

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 this gene was identified in a male, age 4 with global developmental delay, low muscle tone of trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), head turned persistently to the right (torticollis), and webbing of the penis (penoscrotal fusion) (read full description). 

Date of Report

Jan 22, 2021

Full Name

potassium voltage-gated channel subfamily H member 3

Location
Chromosome 12 (12q13.12)
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Function

The KCNH3 gene contributes to the formation of a voltage-gated potassium channel found in the human brain (cerebral cortex, amygdala, hippocampus, others). It is suspected to play a role in the cellular excitability of restricted neurons in the brain (Miyake et al., 1999).

Database Links

GeneCards: GC12P049539

NCBI Gene: 23416

OMIM: 604527

UniProtKB/Swiss-Prot: Q9ULD8

Clinical Significance

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

Gene KCNH3
Inheritance Pattern Unknown
Position chr12:g.49543932C>T
Transcript NM_012284.2
DNA Change c.841C>T
Protein Change p.Arg281Cys
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