RYR1 Chromosome 19

Ryanodine receptor 1

1315 variants 24 Drug Response 1291 Health Risk

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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

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

Drug Response

RS193922762

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1

Drug Response

RS193922770

Likely pathogenic; drug response

Drug Response

RS193922818

Likely pathogenic; drug response

Drug Response

RS193922832

Likely pathogenic; drug response

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
RS150495044	Health Risk	Conflicting classifications of pathogenicity	Multiminicore myopathy, RYR1-related disorder, Malignant hyperthermia
RS150977342	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, RYR1-related myopathy
RS150993059	Health Risk	Conflicting classifications of pathogenicity	Congenital myopathy, Malignant hyperthermia, susceptibility to
RS151239950	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS151325948	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, RYR1-related disorder, Malignant hyperthermia
RS1555767403	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1555770306	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1555780327	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1555787058	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Myopathy, RYR1-associated
RS1555788577	Health Risk	Conflicting classifications of pathogenicity	Distal arthrogryposis, Distal arthrogryposis
RS1555794184	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1555794209	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1555803810	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia
RS1555803933	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS1555805797	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1555806119	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, Central core myopathy
RS1568450514	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1568452917	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1568484835	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1568501702	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1568524980	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia
RS1568537774	Health Risk	Conflicting classifications of pathogenicity	Central core disease, autosomal recessive, Malignant hyperthermia
RS1568581720	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1568593906	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1568593984	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Central core myopathy
RS1568601643	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1568604251	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1568605367	Health Risk	Conflicting classifications of pathogenicity	—
RS1568611362	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1568613455	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1599634685	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Central core myopathy
RS1599635569	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1599660141	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1599674197	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1600720232	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1600772418	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1600822174	Health Risk	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita, RYR1-related disorder
RS1600842678	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
RS1600844997	Health Risk	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to
RS1600856689	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1600892115	Health Risk	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Malignant hyperthermia
RS1801086	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS181968345	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS182004703	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS184450380	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS185021599	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Inborn genetic diseases, Malignant hyperthermia
RS187569997	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS188314477	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS192495718	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS193922761	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia

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