HSAN2; HSN2; KDP; PPP1R167; PRKWNK1; PSK; WNK1 (previously named HSN2; a gene symbol that is now retired).; p65
The WNK1 gene is associated with autosomal recessive hereditary autonomic and sensory neuropathy type 2A (HSAN2A) (MedGen UID: 416701) and autosomal dominant pseudohypoaldosteronism type 2C (PHA2C) (MedGen UID: 327089).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in WNK1 account for 2% of patients with hereditary sensory and autonomic neuropathy.
The WNK1 gene encodes multiple isoforms of the Lysine-deficient protein kinase-1 protein. These proteins are important in several functions in the body, including blood pressure regulation and pain sensation. One isoform, WNK1/HSN2, which is encoded by a single exon found within intron 8 of the WNK1 gene, is expressed only in sensory neurons. The function of WNK1/HSN2 is unknown, however, a role in development or maintenance of peripheral neurons has been suggested.
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|