The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).
Order this gene as a single gene test.
Invitae tests that include this gene:
An estimated 5% of nonsyndromic autosomal dominant atrioventricular septal defects are caused by pathogenic variants in the CRELD1 gene. This rate may be higher in individuals with Down syndrome, who are predisposed to these septal defects.
The CRELD1 gene encodes a protein of uncertain function related to epidermal growth factor receptors. The protein appears to reside in the membrane of the endoplasmic reticulum, an important cellular organelle, and has been shown to serve as an anchor for signaling cascades such as calcineurin/NFAT, which is important in development.
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|