ZFPM1 was first reported in relation to autosomal dominant congenital heart disease in 2019 (Alankarage et al., PMID: 30293987). At least three unique variants (1 missense, 2 frameshift) were reported in three individuals with CHD (PMID: 30293987, 34328347), but only one of them with a frameshift variant was included in this curation. The other two were not scored due to high minor allele frequency (>0.00001) on gnomAD v.4.1.0. This gene-disease relationship is also supported by evidence showing localized expression in the developing heart in mouse embryo, protein interaction studies with GATA4, a null mouse model showing heart defects, and a rescue in morpholino knockdown zebrafish embryos with murine Fog1 (PMID: 14614148, 16316643). In summary, there is limited evidence supporting the relationship between ZFPM1 and autosomal dominant congenital heart disease. 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 July 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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