Associated disorders

The ZFYVE26 gene is associated with autosomal recessive hereditary spastic paraplegia 15 (SPG15) (MedGen UID: 341387).

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Invitae tests that include this gene:

An estimated 4% of autosomal recessive HSP is caused by pathogenic variants identified in ZFYVE26.

The ZFYVE26 gene encodes the spastizin protein. Spastizin is expressed in many tissues, including the nervous system, and has been reported to interact with proteins encoded by other HSP genes, specifically KIAA0415, SPG11, and AP5S1.

Assay and technical information

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
ZFYVE26 NM_015346.3