C-CBL; CBL2; FRA11B; NSLL; RNF55
The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).
Order this gene as a single gene test.
Invitae tests that include this gene:
The percentage of Noonan syndrome attributed to pathogenic variants identified in CBL is unknown.
The CBL gene encodes a E3 ubiquitin ligase that is an enzyme required for targeting receptor tyrosine kinases for degradation by proteasome. CBL tags tyrosine phosphorylated substrates with ubiquitin which serves as a signal for their degradation. CBL is a negative regulator for many signal transduction pathways by regulating intracellular transport and degredation of activated receptor tyrosine kinases.
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|