Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay
Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik Sebastian Westphal, Tobias Burkard, Cordula Maria Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai‐Ann Ng
The paper establishes a functional patch clamp assay to classify KCNH2 variants in LQTS, using Z-scores to inform ACMG criteria and correlate with clinical scores.
Human Genetics and Genomics Advances · Jan 19, 2024Peer-reviewedGenetic & Genomic Medicine