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Article

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

Johnston Jennifer J, Dirksen Robert T, Girard Thierry, Gonsalves Stephen G, Hopkins Philip M, Riazi Sheila, Saddic Louis A, Sambuughin Nyamkhishig, Saxena Richa, Stowell Kathryn, Weber James, Rosenberg Henry, Biesecker Leslie G

Abstract excerpt

PURPOSE: As a ClinGen Expert Panel (EP) we set out to adapt the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) pathogenicity criteria for classification of RYR1 variants as related to autosomal dominantly inherited malignant hyperthermia (MH). METHODS: We specified ACMG/AMP criteria for variant classification for RYR1 and MH. Proposed rules were piloted on 84...

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PMID: 33767344
DOI: 10.1038/s41436-021-01125-w
PMCID: PMC8263483

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