Genetics in Malignant Hyperthermia

In this section you find a list of all causative mutations in the Ryanodine receptor gene (RYR1). You can also switch the view to get a list of all known mutations in RYR1. To see the mutation in the gene-context just click on the mutation.

The second menu option leads to a search form, where you can search for specific positions and sequences of RYR1. You can search for a position number of the coding sequence (cDNA), the protein sequence or a specific exon of RYR1.

There is also an option to submit novel, yet not listed mutations in RYR1.

Guidelines for genetic testing in MH

The EMHG has published guidelines about the criteria to classify mutations as diagnostic (causative). These guidelines can be downloaded. 

Presence of a diagnostic (causative) mutation allows for the diagnosis of MH susceptibility. Absence of such mutation(s) do not allow for any diagnosis. MH can only be excluded by contracture testing. See EMHG guidelines on genetic testing for MH susceptibility.