Table 1.

Molecular Genetic Testing Used in ANO5 Muscle Disease

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
ANO5 Sequence analysis 3100% 4, 5
Gene-targeted deletion/duplication analysis 6None reported 5
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

The most common pathogenic variants in northern European populations are c.191dupA in exon 5 and c.2272C>T in exon 20.

5.
6.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

From: ANO5 Muscle Disease

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