Acute rhabdomyolysis
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, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- {Malignant hyperthermia susceptibility 1}, 145600
- Central core disease, OMIM:117000
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Malignant hyperthermia
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Skeletal muscle channelopathy
- Fetal hydrops
- Clefting
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital myopathy
History Filter Activity
19 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 Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 34348614; 21514828; 29298851; 33250373; 34414986 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, OMIM:117000