Associated disorders

The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).

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Pathogenic variants in the PNP gene are the only known cause of purine nucleoside phosphorylase deficiency, a rare cause of severe combined immunodeficiency (SCID).

The PNP gene encodes purine nucleoside phosphorylase (PNP), an enzyme that is involved in the catabolism and interconversion of purine nucleosides. Specifically, PNP catalyzes the phosphorolysis of guanosine, inosine, and their deoxy counterparts to form hypoxanthine, an intermediate of uric acid metabolism.

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
PNP NM_000270.3