Associated disorders

The IL7R gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 373235).

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An estimated 12% of severe combined immunodeficiency (SCID) is caused by pathogenic variants identified in IL7R.

IL7R encodes the interleukin 7 (IL-7) receptor alpha chain which is a subunit of the IL-7 receptor and the thymic stromal lymphopoietin (TSLP) receptor. The IL-7 receptor is located in the cell membrane of B and T cells as well as their precursors, while TSLP receptor is in the cell membrane of a number of cell types including T cells, B cells, monocytes and dendritic cells. IL-7 is a cytokine that binds to the IL-7 receptor triggering signaling for the development of mature T and B cells. The TSLP cytokine binds to the TSLP receptor triggering signaling for the proliferation and maturation of immune cells.

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
IL7R NM_002185.3