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WNK1

Synonyms
HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65
External resources
Summary
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
48
Likely pathogenic
7
VUS
11,697
Likely benign
2,894
Benign
1,955

Patient phenotypes

Proportions of phenotypes among 55 patients carring pathogenic or likely pathogenic variants on WNK1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.5%
Abnormality of the eye
27.3%
Abnormality of the musculoskeletal system
23.6%
Abnormality of head or neck
18.2%
Abnormality of the ear
16.4%
Abnormality of the immune system
14.5%
Abnormality of the cardiovascular system
10.9%
Growth abnormality
9.1%
Abnormality of blood and blood-forming tissues
7.3%
Abnormality of prenatal development or birth
7.3%
Abnormality of the genitourinary system
7.3%
Abnormality of limbs
5.5%
Abnormality of the digestive system
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the integument
3.6%
Abnormality of the respiratory system
3.6%
Constitutional symptom
3.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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