Most recent guideline publication:
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes
Updates since publication:
September 2019: The published version of this article included a typographical error in Table 1 and in the supplemental tables: RYR1 c.488G>A should instead be listed as RYR1 c.488G>T. The Table 1 in guideline, RYR1 allele definition table, RYR1 allele functionality table, and RYR1 frequency table have been updated accordingly.
Tables provided in the main manuscript of the guideline:
|Table 1. Assignment of RYR1 and CACNA1S phenotype based on genotype|
|Table 2. Recommended therapeutic use of inhaled anesthetics and succinylcholine in relation to RYR1 and CACNA1S phenotype|
Supplement to: Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes
Tables and figures included in the supplement or referenced in the guidelinea:
|Supplemental Table S1. Evidence linking RYR1 and CACNA1S genotype with malignant hyperthermia|
|RYR1 allele definition table|
|RYR1 allele functionality table|
|RYR1 frequency table|
|RYR1 consult text and implementation workflow|
|CACNA1S allele definition table|
|CACNA1S allele functionality table|
|CACNA1S frequency table|
|CACNA1S consult text and implementation workflow|
Gene resource mapping
Drug resource mapping
Clinical decision support:b
aSome of the tables included in the guideline may have been updated online, particularly to reflect newly described or newly characterized alleles. These include the gene-specific information tables (https://www.pharmgkb.org/page/pgxGeneRef) that support CPIC guidelines by providing information regarding star (*) allele definitions, allele function, allele frequency by major ethnic groups, translations of diplotype to phenotype, and gene resource mappings.
bThese resources support the adoption of CPIC guidelines into the electronic health record with clinical decision support and provide information that clinical implementers find helpful.