HHG1; HLP3; HPE3; MCOPCB5; SMMCI; TPT; TPTPS
The SHH gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 327125). Additionally, the SHH gene has preliminary evidence supporting a correlation with autosomal dominant isolated ocular anomalies (PMID: 12503095, 20425842).
Order this gene as a single gene test.
Invitae tests that include this gene:
The Sonic Hedgehog (Shh) cellular signaling cascade is one of the central regulatory networks in embryonic patterning and development. The SHH gene encodes the sonic hedgehog ligand protein, which binds to the Patched receptor on the cell surface and activates the Shh signaling cascade (PMID: 25206052).
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|