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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 1.

Molecular Genetic Testing Used in KCNK9 Imprinting Syndrome

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
KCNK9 Sequence analysis 3, 49/9
Gene-targeted deletion/duplication analysis 50/9
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.

Since KCNK9 is a maternally expressed imprinted gene, determining whether a variant is maternally or paternally inherited is critical for variant classification.

5.

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: KCNK9 Imprinting Syndrome

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