Table 1.

Molecular Genetic Testing Used in ATP1A3-Related Neurologic Disorders

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
ATP1A3 Sequence analysis 3~80%-90% 4, 5
Gene-targeted deletion/duplication analysis 6Unknown 7
1.
2.

See Molecular Genetics for information on 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.
5.

All reported individuals with CAPOS syndrome have the same heterozygous c.2452G>A pathogenic missense variant [Rosewich et al 2014c, Duat Rodriguez et al 2017], although some affected individuals had symptoms that also overlapped with the AHC phenotype.

6.

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

7.

No data on gene-targeted deletion/duplication analysis are available.

From: ATP1A3-Related Neurologic Disorders

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