C2orf23; HMN5B; SPG31; Yip2a
The REEP1 gene is associated with autosomal dominant hereditary spastic paraplegia 31 (SPG31) (MedGen UID: 377858) and distal hereditary motor neuropathy 5B (HMN5B) (MedGen UID: 766570).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in REEP1 cause 3-6.5% of clinical cases of hereditary spastic paraplegia and an unknown percentage of distal hereditary motor neuropathy.
The REEP1 gene encodes a protein named receptor expression-enhancing protein 1. This transmembrane protein is expressed in both olfactory neurons and motor neurons of the brain and spinal cord, where it helps transport vesicles containing newly transcribed proteins to the cell membrane.
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|