Associated disorders

The CRYBB3 gene is associated with autosomal dominant congenital cataracts and autosomal recessive congenital cataracts (MedGen UID: 341862).

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Invitae tests that include this gene:

CRYBB3 gene encodes beta-crystallin B3 protein. In the eye, crystallins are water soluble structural proteins accounting for 90% of lens proteins. Crystallins form protein-protein complexes with each other and with other crystallin proteins. These aggregates are crucial for the maintenance of lens clarity and refractive index/focusing of light by the lens. A key feature of beta crystallins is “Greek motif” important for protein folding. The stability of beta crystallin multimers is thought to be crucial for maintaining refractive index of the lens.

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
CRYBB3 NM_004076.4