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.

From Balasubramanian et al [2017], Kuechler et al [2017], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

Most individuals so far reported with ASXL3-related disorder have truncating or splice site variants in ASXL3.

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.

At least two individuals in a cohort with typical ASXL3-related disorder have ASXL3 deletions identified on chromosomal microarray (CMA) [Authors, personal observation]. Both individuals had deletions that included only ASXL3 without deletion of adjacent genes.

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including ASXL3) that cannot be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 18q12.1 region. CMA designs in current clinical use target the 18q12.1 region.