Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

The prevalence of pathogenic variants in common MODY-associated genes are ∼1:1,500 in the population. The penetrance of pathogenic HNF1A and HNF4A variants, but not of GCK variants, is substantially lower when found incidentally. Our findings are important for incidental reporting of pathogenic variants in MODY and other monogenic disorders.

Source: The American Journal of Human Genetics - October 17, 2022 Category: Genetics & Stem Cells Authors: Uyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, Andrew R Wood, Robin N Beaumont, Jessica Tyrrell, Thomas W Laver, Richard Stahl, Alicia Golden, Jessica M Goehringer, Geisinger-Regeneron DiscovEHR Collaboration, Timothy F Frayling, Andrew T Hatter Tags: Article Source Type: research