CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134
The RPGRIP1L gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 369401), Meckel syndrome (MedGen UID: 409740), and COACH syndrome (MedGen UID: 387879).
Order this gene as a single gene test.
Invitae tests that include this gene:
Primary cilia sense the extracellular environment and transmit signals into the cell for proper organ development and embryonic patterning. These cilia consist of a basal body, transition zone, and axoneme composed of nine peripheral microtubule doublets. Disruption of cilia function can lead to a variety of diseases associated with brain, kidney, lung, eye, digital and/or facial anomalies. The RPGRIP1L gene encodes a protein that is essential for the viability of rod photoreceptors and is also found in the epithelial lining of bronchial and sinus tissues. This protein may be involved in microtubule organization or regulation of transport in primary cilia.
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|