Transplant Co-Morbidity Superpanel
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels
1 review
Claire Fryer-Smith (University of Melbourne)
RYR1 encodes the ryanodine receptor isoform 1, a calcium channel. It plays a critical role in calcium release and muscle contraction in skeletal muscle and is the primary locus for malignant hyperthermia susceptibility (MH). MH is a potentially lethal condition triggered by potent inhalational anesthetics and depolarizing muscle relaxants.
https://www.pharmgkb.org/vip/PA166169452/overviewCreated: 25 Aug 2023, 4:55 a.m. | Last Modified: 25 Aug 2023, 4:55 a.m.
Panel Version: 0.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia MIM# 117000; Congenital myopathy 1B, autosomal recessive MIM# 255320; King-Denborough syndrome MIM# 619542; Malignant hyperthermia susceptibility MIM# 145600
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- {Malignant hyperthermia susceptibility 1}, MIM#145600
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RYR1 was added gene: RYR1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, MIM#145600