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

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

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.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

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. Note: MAGEL2 is a single-exon gene.

Larger deletions of the paternally derived 15q11.2 region that include MAGEL2 typically lead to Prader-Willi syndrome (see Genetically Related Disorders).

A 22-kb inversion and 3-kb deletion, which removed the last 852 bp of MAGEL2, has been described in an individual diagnosed clinically with Chitayat-Hall syndrome [Jobling et al 2018] (see Nomenclature).