RYR1

1 article(s) in the watch · Constitutional genetics

RYR1 encodes the sarcoplasmic-reticulum calcium-release channel. Its variants cause malignant hyperthermia susceptibility and congenital myopathies.

InheritanceDominant (malignant hyperthermia); dominant or recessive (myopathies)

Clinical spectrumAnaesthetic malignant hyperthermia, central-core myopathy

ManagementAvoidance of triggering agents (volatiles, succinylcholine); dantrolene availability.

Curated publications

EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.

RYR1-related disorders (malignant hyperthermia, congenital myopathy, rhabdomyolysis)

How is a RYR1-related condition inherited?+

Dominant (malignant hyperthermia); dominant or recessive (myopathies)

What is the clinical spectrum associated with RYR1?+

Anaesthetic malignant hyperthermia, central-core myopathy

What is the management associated with RYR1?+

Avoidance of triggering agents (volatiles, succinylcholine); dantrolene availability.

How many Geno'X publications cover the RYR1 gene?+

1 publication(s) on RYR1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).