BMP10 was first reported in relation to autosomal dominant pulmonary arterial hypertension in 2019 (Eyries et al., PMID: 30578383). At least 5 variants (missense and nonsense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level and experimental data, including protein interaction, biochemical function, and tissue expression.
Variants in this gene have been reported in at least 5 probands in 4 publications (PMIDs: 29843651, 33187088, 31661308, 30578383). The mechanism for disease is haploinsufficiency.
The gene-disease association is supported by data demonstrating protein interaction, biochemical function and tissue expression (PMIDs: 17068149, 29789425, 31661308). In summary, BMP10 currently has limited evidence supporting a gene-disease relationship with autosomal dominant pulmonary arterial hypertension. This classification was approved by the ClinGen PH Gene Curation Expert Panel on 08/30/2022.
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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