Quality control

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.

Genetic information on a single RYR1 variant

If you want to know the amino acid change, the position on GRCh37 or GRCh38, REVEL-Score, Grantham score…. then visit this website.

Diagnostic MH mutations

To see a list of the diagnostic (ie pathogenic and likely pathogenic) mutations in RYR1 please follow the link.

Variants unlikely to cause malignant hypethermia

The EMHG will (in future) compile a list of variants unlikely to cause malignant hyperthermia.

STAC3 and it’s potential role in malignant hyperthermia susceptibility