OSR1 was first reported in relation to autosomal dominant congenital heart disease in 2016 (Zhang et al 2016., PMID: 26744331). This gene-disease relationship is supported by a mouse model that showed the histology of Tbx5 and Osr1 transgenic mouse embryo hearts at E13.5 with missing structures of atrial septation (PMID: 26744331). In summary, the evidence supporting the relationship between OSR1 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 OSR1 plays in this disease. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date April 8th, 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).
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