RYR1 Chromosome 19
Ryanodine receptor 1
Upload your DNA to see your personal genotypes for variants in RYR1.
What This Gene Does
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ryanodine receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000196218
Associated Conditions (74)
Central core myopathy
RYR1-related disorder
King Denborough syndrome
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
RYR1-related myopathy
Malignant hyperthermia
susceptibility to
1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia of anesthesia
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
Congenital myopathy
Myopathy
+54 more conditions
Key Variants
RS118192124
Likely pathogenic; drug response
Central core myopathy, RYR1-related disorder, King Denborough syndrome
Drug Response
RS121918596
Likely pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
RS193922748
Likely pathogenic; drug response
RYR1-related disorder, sevoflurane response - Toxicity, Malignant hyperthermia
Drug Response
RS193922762
Likely pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
RS193922770
Likely pathogenic; drug response
RYR1-related disorder, desflurane response - Toxicity, halothane response - Toxicity
Drug Response
RS193922818
Likely pathogenic; drug response
RYR1-related disorder, Malignant hyperthermia, susceptibility to
Drug Response
RS193922832
Likely pathogenic; drug response
RYR1-related disorder, sevoflurane response - Toxicity, desflurane response - Toxicity
Drug Response
RS193922876
Likely pathogenic; drug response
desflurane response - Toxicity, enflurane response - Toxicity, succinylcholine response - Toxicity
Drug Response
RS193922878
Likely pathogenic; drug response
desflurane response - Toxicity, halothane response - Toxicity, isoflurane response - Toxicity
Drug Response
RS28933397
Likely pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
RS118192122
Pathogenic; drug response
Central core myopathy, Malignant hyperthermia, susceptibility to
Drug Response
RS118192161
Pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
All Variants (1315)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587784374 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, RYR1-related disorder, RYR1-related disorder |
| RS752199191 | Health Risk | Pathogenic/Likely pathogenic | Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder, King Denborough syndrome |
| RS756326114 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder |
| RS759632485 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Malignant hyperthermia, susceptibility to |
| RS761483896 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Central core myopathy, RYR1-related disorder |
| RS764262446 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia |
| RS767861590 | Health Risk | Pathogenic/Likely pathogenic | Central core myopathy, RYR1-related disorder, Central core myopathy |
| RS768539376 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Centronuclear myopathy, RYR1-related disorder |
| RS768698639 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, RYR1-related disorder |
| RS772494345 | Health Risk | Pathogenic/Likely pathogenic | Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, Central core myopathy |
| RS779723153 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion |
| RS794727683 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS886039586 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Abnormality of the musculature, RYR1-related myopathy |
| RS886042826 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, RYR1-related disorder |
| RS911417327 | Health Risk | Pathogenic/Likely pathogenic | RYR1-related disorder, Centronuclear myopathy, Malignant hyperthermia |