Associated disorders

The ZFYVE27 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 33 (SPG33) (MedGen UID: 339943).

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Invitae tests that include this gene:

The percentage of autosomal dominant HSP caused by pathogenic variants in ZFYVE27 is unknown.

The ZFYVE27 gene encodes the zinc finger FYVE domain-containing protein 27, also known as protrudin, which has been reported to interact with ER-localized proteins and regulates ER network formation. It has also been implicated in promoting neurite outgrowth.

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
ZFYVE27 NM_001002261.3