Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng, Arthur A.M. Wilde, Robin A. Bertels, Hennie Bikker, Imke Christiaans, Saskia N. van der Crabben, Janna A. Hol, Tamara T. Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J. van der Smagt, Connie R. Bezzina, Jamie I. Vandenberg, , Elisabeth M. Lodder
The paper reclassifies a variant in KCNH2 as a low penetrant likely pathogenic variant for LQTS2 based on biophysical effects and clinical variability.
Human Molecular Genetics · Oct 19, 2022Peer-reviewedGenetics