Associated disorders

The ANO5 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGDM2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750). It is also associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575).

Pathogenic variants in ANO5 cause an estimated 25% and 11% of cases of autosomal recessive LGMD in the UK and Denmark, respectively. A founder mutation prevalent in Northern Europe makes anoctaminopathy one of the more common forms of LGMD. ANO5 is the only known cause of gnathodiaphyseal dysplasia. ANO5 is also a rare cause of distal myopathy.

The ANO5 gene encodes the Anoctomin 5 protein, a transmembrane protein that is expressed in skeletal and cardiac muscle and may play a role in membrane repair.

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
ANO5 NM_213599.2