Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility
Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard, Stephen G. Gonsalves, Philip Morgan Hopkins, Sheila Riazi, Louis Saddic, Nyamkhishig Sambuughin, Richa Saxena, Kathryn M. Stowell, James L. Weber, Henry R. Rosenberg, Leslie G. Biesecker
The paper develops and validates ACMG/AMP criteria for assessing RYR1 variant pathogenicity in malignant hyperthermia, using quantitative calibration and expert panel evaluation.
Genetics in Medicine · Mar 25, 2021Peer-reviewedGenetics