Associated disorders

The NHEJ1 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation (MedGen UID: 369590).

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Pathogenic variants in NHEJ1 are a rare cause of radiosensitive severe combined immunodeficiency (RS-SCID). At this time, the percentage of SCID or RS-SCID that can be attributed to pathogenic variants in NHEJ1 is unknown.

The NHEJ1 gene encodes a DNA repair factor essential for the non-homologous end-joining pathway, which preferentially mediates repair of double-stranded breaks resulting from genotoxic stresses and are among the most damaging of DNA lesions.

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
NHEJ1 NM_024782.2