WNK1

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 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

WNK lysine deficient protein kinase 1

Location

Chromosome 12 (12p13.33)

Function

The WNK1 gene codes for a serine/threonine protein kinase (Xu et al., 2000).

Database Links

GeneCards: WNK1

MedlinePlus Genetics: WNK1

NCBI Gene: 65125

OMIM: 605232

UniProtKB/Swiss-Prot: Q9H4A3

Clinical Significance

Changes in this gene have been found in individuals with hereditary sensory and autonomic neuropathy II and pseudohypoaldosteronism type IIC.

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 WNK1

Inheritance Pattern Autosomal recessive

Position (hg19) chr12:g.987490C>T

Transcript NM_018979.3

DNA Change c.2336C>T

Protein Change p.Ala779Val

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