Name

of the person reporting

First Name

Last Name

Email Address

Nucleotide change

according to NM_000540.2

Amino acid change

MAF in ExAc

Other RYR1 variants identified in this patient

please add any additional RYR1 variants found in this patient

Clinical reaction

give a short description of the clinical MH reaction. Write 'none' if there was none.

Halothane pre-drug twitch height

Maximum contracture at 2% halothane

Caffeine pre-drug twitch height

Maximum contracture at 2mM caffeine

Number of independent families

carrying this variant tested in your laboratory. Please include ONLY families tested by IVCT because of an anaesthetic MH-event.

MHS with this variant in family

MHS WITHOUT this variant in family

MHN with this variant in family

MHN WITHOUT this variant in family

In vitro functional study

Is there supportive evidence of gain of function effect on intracellular calcium release of this mutation? Describe in comments section below.

yes, in -vitro functional study available

In vivo functional study

Is there supportive evidence of gain of function effect on intracellular calcium release of this mutation? Describe in comments section below.

yes, in vivo functional study available

Comments

Specialist society member

Submit RYR1 variant

EMHG