×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
25558065 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.
25735680 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
25957634 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
24433488 2014
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
23459219 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
23558838 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Genotype-phenotype correlations in recessive RYR1-related myopathies.
23919265 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
23553787 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Genotype-phenotype correlations in recessive RYR1-related myopathies.
23919265 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
22473935 2012
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
19919814 2010
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
19645060 2009
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
19648156 2009
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
18564801 2008
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
18253926 2008
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
17483490 2007
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
16163667 2005
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.
14999498 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
12220451 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
[Current aspects of the diagnosis of malignant hyperthermia].
12434264 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
12208234 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.
12066726 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
GeneticVariation
CLINVAR
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
12411788 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
0.900
CausalMutation
CLINVAR
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
11575529 2001