RECQL4 was first reported in relation to autosomal dominant congenital heart disease in 2021 (Morton et al., PMID: 33084842). A case-control study found lack of enrichment of *RECQL4 *variants in congenital heart disease patients compared to controls. Experimental evidence for this gene was also evaluated. In one mouse model, the homozygous mutant mice were able to survive past birth, yet had high-severity growth delay and anomalies in many regions, skin anomalies, and embryonic fibroblasts with a reduction in cell proliferation. In another mouse model, the homozygous mutants had significant skin anomaly, skeletal congenital complications, genomic instability, and heightened cancer risk. However, neither of these mouse models were scored as none of the mutants had congenital heart disease (PMID: 12915449, 15703196). No evidence for a causal role for RECQL4 in autosomal dominant congenital heart disease has been reported. However, congenital heart disease is just one symptom associated with autosomal recessive Baller-Gerold Syndrome, for which more RECQL4 variants have been reported. The relationship between RECQL4 and Baller-Gerold Syndrome is yet to be evaluated. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date 2/10/2025 (SOP Version 11).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.