Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility

PURPOSE: As a ClinGen Expert Panel (EP) we set out to adapt the ACMG 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...

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Udgivet i:Genet Med
Main Authors: Johnston, Jennifer J., Dirksen, Robert T., Girard, Thierry, Gonsalves, Stephen G., Hopkins, Phil M., Riazi, Sheila, Saddic, Louis A., Sambuughin, Nyamkhishig, Saxena, Richa, Stowell, Kathryn, Weber, James, Rosenberg, Henry, Biesecker, Leslie G.
Format: Artigo
Sprog:Inglês
Udgivet: 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8263483/
https://ncbi.nlm.nih.gov/pubmed/33767344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-021-01125-w
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