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DNM2

Alias

CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII; LCCS5

Associated disorders

The DNM2 gene is associated with autosomal dominant centronuclear myopathy (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). The DNM2 gene also has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).

In a cohort of 54 Italian CNM patients, 19 (35%) were found to have pathogenic variants in DNM2. Among twenty-four patients with childhood-onset or adult-onset CNM in the same cohort, pathogenic variants in DNM2 were found in 13 (54%) cases.

DNM2 encodes dynamin 2, a ubiquitously-expressed large GTPase protein which interacts with actin and microtubule networks to facilitate endocytosis, intracellular membrane trafficking, and proper centrosome function.

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 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
DNM2 NM_001005360.2