CSRP1 was first reported in relation to autosomal dominant congenital heart disease in 2017 (Kamar et al., PMID: 29326753). One variant (frameshift) that has been reported in three affected probands from one family in one publication (PMIDs: 29326753) is included in this curation. This variant was not scored due to assertion for digenic inheritance with TRPS1. The mechanism of pathogenicity appears to be loss-of-function. This gene-disease relationship is supported by experimental evidence (expression-level evidence; Descartes fetal expression data, PMID: 17592114). Expression-level evidence in zebrafish with knockdown of CSRP1 is indicative of cardiac bifida. In summary, the evidence supporting the relationship between *CSRP1 *and autosomal dominant Congenital Heart Disease has been disputed and no valid evidence remains to support the claim. More evidence is needed to either support or entirely refute the role CSRP1 plays in this disease. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date July 2nd 2024 (SOP Version 10).
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.