LRP2 was first reported in relation to autosomal recessive congenital heart disease in 2020 (Theis JL et al., PMID: 33006316). Two unique variants (heterozygous missense) that have been reported in one proband in one publication are included in this curation (PMID: 33006316). However, these variants were not scored due to a high minor allele frequency in gnomAD v.4.This gene-disease relationship is supported by an animal model (PMID: 26822476). No evidence for a causal role for LRP2 in autosomal recessive congenital heart disease has been reported. Although this gene-disease relationship is supported by an animal model, no reports have directly implicated the gene in humans.This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date September 9th, 2024 (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.