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RYR1

ryanodine receptor 1
6 disorders 3 untyped 2 causative 1 no genetic record 19q13.2 gene with protein product
HGNC:10483MonarchNCBI Gene 6261ENSG00000196218UniProt P21817OMIM 180901

Previous symbols: MHS, MHS1, CCO. Aliases: RYR, PPP1R137.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Centronuclear Myopathy causative
mechanism: RYR1 calcium-release channel dysfunction
subtype: RYR1-CNM
scoped to subtype: RYR1-CNM
Multiminicore Disease causative
mechanism: RYR1 dysfunction and abnormal SR calcium release
subtype: RYR1
scoped to subtype: RYR1
Central Core Myopathy untyped
Causative
mechanism: Abnormal RyR1 calcium release channel function; Dominant RYR1 missense hotspot variants; Recessive RYR1 reduced-expression variants; RyR1 deficiency and excitation-contraction uncoupling
Malignant hyperthermia of anesthesia untyped
Causative
mechanism: Trigger-dependent RyR1 calcium dysregulation
RYR1-Related Myopathy untyped
Causative
germline gain of functionpartial loss of function
mechanism: Dominant RYR1 Gain-of-Function (Leaky Channel) Variants; Recessive RYR1 Hypomorphic (Reduced-Expression) Variants; Shared RyR1 Calcium-Release Dysfunction
subtype: CFTD-RYR1; Dominant RYR1-Related Myopathy; KDS; MHS1; Recessive RYR1-Related Myopathy
Bailey-Bloch Congenital Myopathy no genetic record
mechanism: Reduced CaV1.1 Junctional Expression
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
malignant hyperthermia, susceptibility to, 1 MONDO:0007783 AD Definitive
2020-11-25
 no dismech entry
RYR1-related myopathy MONDO:0100150 AD Definitive
2020-10-26
RYR1-related myopathy MONDO:0100150 AR Definitive
2020-07-27

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.