After a comprehensive literature review, the gene-disease relationship between NOTCH3 and pulmonary arterial hypertension is disputed. Despite experimental evidence including function in biochemical pathways, functional alteration in non-human cells, and expression data suggesting a role for NOTCH3 in pulmonary arterial hypertension, there is no genetic evidence to support a classification of limited. Instead, a classification of disputed was reached due to insufficient proband level evidence over multiple years. Classification approved by Pulmonary Hypertension GCEP panel on 8/30/2022 (SOP Version 9).
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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