Rhabdomyolysis and metabolic muscle disorders
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P for Minicore myopathy with external ophthalmoplegia 255320. Numerous variants reported in Malignant hyperthermia susceptibility 1 (145600), Minicore myopathy with external ophthalmoplegia (255320) and Central core disease (117000)Created: 5 Dec 2016, 12:04 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Malignant hyperthermia susceptibility 1}, 145600
- Central core disease, 117000
- Minicore myopathy with external ophthalmoplegia, 255320
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- Complete
- Panels with this gene
-
- Congenital myopathy
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- 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
- Clefting
- Skeletal muscle channelopathy
- Fetal hydrops
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RYR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RYR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Radboud University Medical Center, Nijmegen