The SKI gene is associated with autosomal dominant Shprintzen-Goldberg syndrome (MedGen UID: 231160).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic SKI variants are associated with 95%-100% of clinical cases of Shprintzen-Goldberg syndrome.
The SKI gene encodes a proto-oncoprotein, which represses TGF-beta activity. The TGF-beta pathway is involved in cellular proliferation, differentiation, motility, and apoptosis. The SKI protein binds to the SMAD protein complex in this pathway, which interrupts activation and signaling, thus regulating TGF-beta activity.
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|