Associated disorders

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).

The percentage of clinical cases of distal myopathy caused by pathogenic variants in the GNE gene is unknown, however GNE is a common cause of myopathy in the Iranian-Jewish population due to a founder mutation.

The GNE gene encodes UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, a bifunctional enzyme that is a component of the sialic acid biosynthetic pathway.

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
GNE NM_001128227.2