Genes are listed in alphabetic order.

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

See Molecular Genetics for information on allelic 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.

Data derived from the subscription-based professional view of the Human Gene Mutation Database [Stenson et al 2017]

The most frequently detected pathogenic variant, c.2705-198C>T [Ajeawung et al 2019], is deep intronic and may not be detected by routine analysis.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

Some pathogenic variants are in short introns of RECQL4; therefore, sequencing should encompass these intronic regions [Wang et al 2002].

In nearly 40% of individuals with the typical clinical findings of RTS, molecular genetic testing fails to identify a pathogenic variant in RECQL4. These individuals have been designated as having type 1 RTS. A proportion of probands with type 1 RTS will have pathogenic variants in ANAPC1 (7 of 9 families tested by Ajeawung et al [2019]). The existence of one or more additional causative genes is likely [Wang et al 2003, Ajeawung et al 2019].