CMD1N; CMH25; LGMD2G; T-cap; TELE; telethonin
The TCAP gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TCAP gene has preliminary evidence supporting a correlation with hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in TCAP cause approximately 3% of clinical cases of LGMD and an unknown percentage of CMD cases. Pathogenic TCAP variants are also associated with an unknown percentage of clinical cases of HCM and DCM in the absence of skeletal muscle involvement. Among a large cohort of Japanese and Korean patients, TCAP-related hypertrophic and dilated cardiomyopathy were found in 0.6% (2/346) and 0.7% (1/136) of patients, respectively.
The TCAP gene encodes the protein telethonin, which is present in both cardiac and skeletal muscles. Telethonin binds to the large scaffolding protein titin, which aids in maintaining the structure of the sarcomere complex, the primary role of which is muscle contraction.
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|