Associated disorders

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 442308), and metachondromatosis (MedGen UID: 98377).

An estimated 50% of Noonan syndrome is caused by pathogenic variants identified in PTPN11.

The PTPN11 gene encodes a protein that is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules of the RAS/MAPK pathway that regulate growth, differentiation, mitotic cycle, and oncogenic transformation. It is widely expressed in most tissues and plays a regulatory role in cell-signaling events important for cell division, cell migration, and apoptosis. During embryonic development, PTPN11 function is critical for development of heart, blood cells, bones, and several other tissues.

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
PTPN11 NM_002834.3