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.

Hamdan et al [2014], DeSanto et al [2015], Tammimies et al [2015], Lugtenberg et al [2016]. See Molecular Genetics, Pathogenic variants.

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.

Individuals reported to have larger deletions that include more genes in the 10p12.1 region have phenotypic features that overlap those of WAC-related intellectual disability described in this GeneReview [Shahdadpuri et al 2008, Wentzel et al 2011, Okamoto et al 2012, Mroczkowski et al 2014, Sosoi et al 2015, Abdelhedi et al 2016]. Larger deletions may, however, be associated with more severe degrees of intellectual disability or additional features (such as cardiac anomalies) due to haploinsufficiency of other genes.

To date, one individual has been reported with an intragenic deletion encompassing exons 5 to 14 (originally detected by CMA) [Lugtenberg et al 2016].