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)
WNK1-chr12.png

Function

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

Database Links

GeneCards: GC12P00073

Genetics Home Reference: WNK1 Gene

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 chr12: 987490
Transcript NM_018979
DNA Change c.2336C>T
Protein Change p.A779V
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