RSTS = Rubinstein-Taybi syndrome

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 missense, nonsense, and splice site variants and small intragenic deletions/insertions; 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. 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 may not be detected by these methods (see Genetically Related Disorders). Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

Pérez-Grijalba et al [2019]; data also derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

Spena et al [2015], Cross et al [2020]

Negri et al [2015], Fergelot et al [2016]

Fergelot et al [2016], Cohen et al [2020]

RSTS may be caused by pathogenic variants in other genes in up to 30% of individuals [Fergelot et al 2016].