Skeletal muscle channelopathy
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
1 review
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Only analyse RYR1 if patient has been seen in muscle channelopathy clinic at NHNN or if discussed with the muscle channel clinical team.Created: 25 Oct 2019, 12:31 p.m. | Last Modified: 25 Oct 2019, 12:31 p.m.
Panel Version: 0.15
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant)
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- Central core disease, OMIM:117000 (Dominant & recessive)
- Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive)
- Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene RYR1 were changed from to 12136074; 16163667; 20839240
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RYR1.
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) for gene: RYR1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to RYR1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: RYR1 was added gene: RYR1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: RYR1 was set to