SOX7 was first reported in relation to autosomal dominant congenital heart disease in 2013 (Long et al., PMID: 24009689). At least two unique variants (1 missense, 1 nonsense) that were reported in two individuals with CHD (PMID: 35422912, 37406974) were included in this curation. There are other individuals reported with variants in SOX7 in the literature, however they were not included due to inconsistent mechanism of pathogenicity or high frequencies in gnomAD v4 (PMIDs: 24009689, 35260939). Of note, several individuals with CHD were also identified with CNVs that included SOX7 and other genes including GATA4 (PMID: 22318994, 33846290, 36816019). This gene-disease relationship is also supported by evidence of biochemical function studies, expression in embryonic human and mouse heart, protein interaction with GATA4, and a knockout mouse model replicating the disease phenotype (PMIDs: 35260939, 33846290, 37000005). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date October 1st, 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).
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