NA = not applicable

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

See Molecular Genetics for information on variants detected in these genes.

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.

Ott et al [2010], Motaei et al [2021], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020] and review of the ClinVar database.

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 Puvabanditsin et al [2018]) may not be detected by these methods.

Individuals with RUNX2 deletions may have a phenotype consistent with a CCD spectrum disorder and additional findings including developmental delay.

Two individuals with translocations involving the RUNX2 locus have been reported [Purandare et al 2008, Northup et al 2011].