Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:24 p.m. | Last Modified: 28 Nov 2019, 4:24 p.m.
Panel Version: 1.120
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 4:23 p.m. | Last Modified: 28 Nov 2019, 4:23 p.m.
Panel Version: 1.119
Chiara Marini Bettolo (NUTH)
Variable disease spectrum from congenital myopathy, metabolic myopathy, MH. Differential diagnosis with LGMDCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
congenital myopathy; Central core disease; malignant hyperthermia
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
- Central core disease, 117000
- congenital myopathy
- malignant hyperthermia
- 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
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: ryr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: ryr1 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RYR1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to RYR1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: RYR1 were changed from Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 to Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000; congenital myopathy; malignant hyperthermia
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 for gene: RYR1 Publications for gene RYR1 were changed from to 8220422; 8220423
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: RYR1 was added gene: RYR1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: RYR1 was set to