Article
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
American journal of human genetics - 1 Oct 2015
Gallego Carlos J, Burt Amber, Sundaresan Agnes S, Ye Zi, Shaw Christopher, Crosslin David R, Crane Paul K, Fullerton S Malia, Hansen Kris, Carrell David, Kuivaniemi Helena, Derr Kimberly, de Andrade Mariza, McCarty Catherine A, Kitchner Terrie E, Ragon Brittany K, Stallings Sarah C, Papa Gabriella, Bochenek Joseph, Smith Maureen E, Aufox Sharon A, Pacheco Jennifer A, Patel Vaibhav, Friesema Elisha M, Erwin Angelika Ludtke, Gottesman Omri, Gerhard Glenn S, Ritchie Marylyn, Motulsky Arno G, Kullo Iftikhar J, Larson Eric B, Tromp Gerard, Brilliant Murray H, Bottinger Erwin, Denny Joshua C, Roden Dan M, Williams Marc S, Jarvik Gail P
Abstract excerpt
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of HFE variants in individuals undergoing genome-scale sequencing should be informed by penetrance estimates of HH in unselected samples. We used the eMERGE Network, a multicenter cohort with...
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