ELN encodes the protein elastin, a structural constituent of the extracellular matrix and primary protein determinant of elasticity in tissues and organs including the heart, skin, lungs, ligaments, and blood vessels.
Variants in ELN have been reported in individuals with the following disease entities: supravalvular (or supravalvar) aortic stenosis (SVAS) and autosomal dominant cutis laxa (ADCL). Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in molecular mechanisms and phenotypic variability, resulting in our assessment of gene-disease relationship being split into two disease entities; supravalvular aortic stenosis (MONDO:0008504) and autosomal dominant cutis laxa 1 (MONDO:0007411). This split curation focuses on *ELN
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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