Table 1.

Molecular Genetic Testing Used in PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

Gene 1MethodProportion of Pathogenic Variants 2, 3 Identified by Method
PPP1R12A Sequence analysis 412/12 5
Gene-targeted deletion/duplication analysis 6Unknown 7
1.

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

2.

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

3.

Fourteen additional individuals with contiguous gene deletions (not included in these calculations) have been reported in the literature [Niclass et al 2020] or in the Decipher database (see Genetically Related Disorders).

4.

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

5.
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 detection rate of gene-targeted deletion/duplication analysis are available.

From: PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

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