Contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448). Additionally, the PREPL gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 22 (CMS22) (MedGen UID: 910642; PMID: 24610330).
Order this gene as a single gene test.
PREPL: Only deletion/duplication analysis is offered for this gene.
Invitae tests that include this gene:
PREPL is a very rare cause of congenital myasthenic syndrome, and the percentage of cases attributed to pathogenic variants in PREPL is unknown.
PREPL encodes a member of the prolyl oligopeptidase subfamily of serine peptidases. Although the function of PREPL is not completely understood, it is known that PREPL acts as an effector of the clathrin-associated adaptor protein-1 (AP-1). Because AP-1 is required for transport of acetycholine-containing vesicles to the cytosol, loss of PREPL activity could negatively impact neuromuscular transmission.
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|
*PREPL: Only deletion/duplication analysis is offered for this gene.