Genetics in Malignant Hyperthermia
Please take note, that RYR1 is now included in the European molecular quality network (EMQN). For more details see here.
Characterisation of sequence variants
The classification / characterisation of sequence variants is part of the diagnostic guidelines and can be found here.
The EMHG has consented on a scoring matrix for classification of pathogenicity of genetic variants in malignant hyperthermia susceptibility
If you do have detailed information on sequence variants of yet unknown significance you can report this variant here.
Diagnostic MH mutations
Detailed genetic information
The EMHG is providing a website with a list of known RYR1 variants. There is an option to search for specific genomic or coding sequences, as well as for specific positions (genomic, coding, amino acid).
Due to the website update, this functionality is currently not available.