HDAC1 was reported in relation to autosomal dominant congenital heart disease in 2007 (Montgomery et al., PMID: 17639084). No genetic evidence linking HDAC1 was identified in the literature or elsewhere. There was no scorable experimental evidence either. The sole source of experimental evidence analyzed was a mouse model (PMID: 17639084), which was considered non-scorable as there was no genetic evidence and the mice did not recapitulate the specific phenotype of congenital heart disease. In summary, the evidence supporting the relationship between HDAC1 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 HDAC1 plays in this disease. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date January 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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