Table 1.

Molecular Genetic Testing Used in PPP2R1A-Related Neurodevelopmental Disorder

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PPP2R1A Sequence analysis 3100% 4, 5
Gene-targeted deletion/duplication analysis 6None 7
1.

See Table A. Genes and Databases for chromosome locus and protein.

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.

Fewer than 50 affected individuals with pathogenic PPP2R1A variants have been reported in the literature to date.

5.

Houge et al [2015], Wallace et al [2019], Zhang et al [2020], Lenaerts et al [2021], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

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.

Only pathogenic missense variants with likely dominant-negative effects have so far been reported to cause PPP2R1A-NDD (see Molecular Genetics).

From: PPP2R1A-Related Neurodevelopmental Disorder

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