Associated disorders

The CRELD1 gene is associated with autosomal dominant atrioventricular septal defect 2 (MedGen UID: 381193).

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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.

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
CRELD1 NM_001031717.3