Genes are listed in alphabetic order.

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.

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.

Grange et al [2019]

All pathogenic variants reported to date are gain-of-function variants in ABCC9 and KCNJ8; thus, testing for deletion (haploinsufficiency) or duplication (overexpression) is not indicated.

Brownstein et al [2013], Cooper et al [2014], Chihara et al [2020]

A small number (<1%) of individuals with a clinical diagnosis of Cantú syndrome in whom no ABCC9 or KCNJ8 variant was found raises the possibility that other as-yet unidentified genes may be involved [DK Grange, personal observation].