Associated disorders

The CHMP4B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital cataracts.

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The CHMP4B gene encodes for the charged multivesicular body protein 4b and plays an important role in autophagy, a process by which the cell clears cellular debris. This protein is involved in the endosomal sorting complex required for transport (ESCRT) complex III, which sorts endocytosed cell-surface receptors into multivesicular endosomes and ultimately to lysosomes for degradation. CHMP4B is also thought to play a role in abscission, a final step in cytokinesis where chromatin debris, chromosome bridges and micronuclei that can result from errors in cell division process are cleared.

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
CHMP4B NM_176812.4