RYR1
Musculoskeletal System · Excitation-Contraction Coupling
How does a skeletal muscle release calcium to start contracting?
RYR1 makes a channel that releases calcium from stores inside muscle cells. The released calcium helps trigger the machinery that produces muscle contraction.
- Common Gene Name
- ryanodine receptor 1
- NCBI Gene ID
- 6261
- Chromosome
- 19
Clinical Evidence Status
Actionability report availableEstablished disease relationshipTumor or drug-label biomarker context
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (14 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| malignant hyperthermia, susceptibility to, 1 | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2020-11-25 |
| RYR1-related myopathy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2020-07-27 |
| RYR1-related myopathy | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2020-10-26 |
| Central core disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-03 | |
| Malignant hyperthermia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-03 | |
| Multiminicore disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-03 | |
| Congenital fiber-type disproportion | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-03 | |
| Centronuclear myopathy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-03 | |
| Malignant Hyperthermia Susceptibility | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2022-02-09 |
| Malignant Hyperthermia Susceptibility | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2022-02-09 |
| Desflurane | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Anesthesiology | View source |
| Isoflurane | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Anesthesiology | View source |
| Sevoflurane | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Anesthesiology | View source |
| Succinylcholine (2) | FDA labeling biomarker | Label mentions biomarker; actionability not inferred | Anesthesiology | View source |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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