AMPH2; AMPHL; SH3P9
The BIN1 gene is associated with autosomal recessive centronuclear myopathy 2 (CNM2) (MedGen UID: 98049). Dominant inheritance has also been reported (PMID: 25260562).
Order this gene as a single gene test.
Invitae tests that include this gene:
The percentage of clinical cases of CNM caused by pathogenic variants in BIN1 is unknown. However, BIN1 may account for the majority of adult-onset cases with autosomal dominant inheritance.
BIN1 encodes Amphiphysin, an N-BAR domain-containing protein that plays a role in the biogenesis of T-tubules in muscle tissue.
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|