Malignant hyperthermia
Gene: RYR1
RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 1:53 p.m. | Last Modified: 16 Feb 2022, 1:53 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- {Malignant hyperthermia susceptibility 1}, OMIM:145600
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Congenital myopathy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Acute rhabdomyolysis
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Congenital myaesthenic syndrome
- Undiagnosed metabolic disorders
- Malignant hyperthermia
- Clefting
- Likely inborn error of metabolism
- Skeletal muscle channelopathy
- Fetal hydrops
History Filter Activity
19 Jan 2022, Gel status: 3
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to RYR1.
11 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: RYR1 was added gene: RYR1 was added to Malignant hyperthermia. Sources: Expert Review Green Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR1 were set to 31559918; 16163667; 32919876; 31737266; 33767344; 34462577 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, OMIM:145600