Associated disorders

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

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An estimated 98% of Legius syndrome is caused by pathogenic variants, including sequence and deletion/duplication variants, identified in SPRED1. Of individuals evaluated for NF1 without an identifiable NF1 pathogenic variant, 3%-25% had a pathogenic variant identified in SPRED1.

The SPRED1 gene encodes a protein that acts as a negative regulator of the MAPK kinase cascade in the RAS/MAPK signaling pathway in response to growth factors. SPRED1 binding to the RAF protein in the RAS/MAPK pathway inactivates downstream signaling to regulate cell growth, proliferation, maturation, migration, and death.

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
SPRED1 NM_152594.2