Malignant Hyperthermia Susceptibility
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia
Sources: Expert listCreated: 6 Oct 2020, 6:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Malignant hyperthermia susceptibility 1} MIM#145600
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Malignant hyperthermia susceptibility 1} MIM#145600
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Skeletal Muscle Channelopathies
- Malignant Hyperthermia Susceptibility
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Clefting disorders
- Prepair 1000+
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Congenital ophthalmoplegia
- Transplant Co-Morbidity Superpanel
- Multiple pterygium syndrome_Fetal akinesia sequence
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Pharmacogenomics_Paediatric
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ryr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ryr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: RYR1 was added gene: RYR1 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR1 were set to 20301325 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} MIM#145600 Mode of pathogenicity for gene: RYR1 was set to Other Review for gene: RYR1 was set to GREEN