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

See Molecular Genetics for information on 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.

Gannon et al [2015], Radvanszky et al [2017]

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. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Preiksaitiene et al [2017] and Herriges et al [2019]) may not be detected by these methods.

A 5-Mb 10q22.1q22.3 deletion encompassing KAT6B has been described in an individual with a phenotype compatible with SBBYSS [Preiksaitiene et al 2017].

Interstitial 10q21.3q22.2 deletions encompassing KAT6B have been reported in eight individuals who presented with some features overlapping with KAT6B disorders, such as hypotonia, developmental delay, feeding difficulties, and craniofacial dysmorphisms [Herriges et al 2019].