Associated disorders

The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).

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Percentage of nemaline myopathy caused by KLHL40 is unknown. However, 28 of 143 families with severe nemaline myopathy were found to have KLHL40 pathogenic variants. Therefore, KLHL40 may account for a significant portion of severe, neonatal-onset nemaline myopathy.

KLHL40 encodes a member of the BTB domain-containing Kelch family of proteins. KLHL40 is expressed in skeletal muscle, and is more abundant in fetal tissue than postnatal tissue. KLHL40 is thought to be involved with muscle development and maintenance via ubiquitin-dependent protein turnover.

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
KLHL40 NM_152393.3