Skeletal Muscle Channelopathies
Gene: RYR1

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia
Sources: Expert list
Created: 6 Oct 2020, 6:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Malignant hyperthermia susceptibility 1} MIM#145600

Publications

20301325

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Oct 2020, 6:40 a.m.

Panel version: Imported from Mendeliome panel version Imported from Malignant Hyperthermia Susceptibility panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert list
Royal Melbourne Hospital
Expert Review Green

Phenotypes

Malignant hyperthermia

OMIM

180901

Clinvar variants

Variants in RYR1

Penetrance

None

Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RYR1 was added gene: RYR1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RYR1 were set to Malignant hyperthermia

Skeletal Muscle Channelopathies Gene: RYR1