The TRPV4 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) disease (MedGen UID: 389170), scapuloperoneal spinal muscular atrophy (SPSMA) (MedGen UID: 148283) and distal hereditary motor neuropathy 8, also known as distal spinal muscular atrophy (HMN8) (MedGen UID: 373984). The TRPV4 gene is also associated with several types of autosomal dominant skeletal dysplasias (OMIM: 605427).
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Invitae tests that include this gene:
TRPV4 is a rare cause of CMT2, SPSMA and HMN8. The percentage of clinical cases of these disorders attributed to pathogenic variants in TRPV4 is unknown.
The TRPV4 gene encodes the transient receptor potential cation channel, subfamily V, member 4 protein. This protein is a widely distributed cationic channel that participates in the transduction of both physical (osmotic, mechanical, and heat) and chemical (endogenous, plant-derived, and synthetic ligands) stimuli.
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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
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|