Congenital myopathy
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600
Publications
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Clear evidence of causation. AD and AR inheritanceCreated: 3 Feb 2017, 11:18 a.m.
Comment on mode of inheritance: Caution re malignant hyperthermia susceptibility (even in unaffected carriers). Potentially actionableCreated: 3 Feb 2017, 11:17 a.m.
Comment on list classification: RYR1 a recognised cause of central core disease. Tagged as pharmacogenetic / treatable in view of the need to highlight risk of MHS (malignant hyperthermia susceptibility) in affected individuals and potentially unaffected carriersCreated: 3 Feb 2017, 11:16 a.m.
Well established causal role with congenital myopathy associated with central cores. AR or AD inheritance. Important to recognise that phenotype of RYR1 mutations can also include Malignant Hyperthermia susceptibility, which could also be of clinical relevance to healthy carriers where AR inheritance is relevant within the family.Created: 30 Jan 2017, 11:27 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000
Publications
- PMID 26799446
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Central core disease, OMIM:117000
- Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000
- Minicore myopathy with external ophthalmoplegia, OMIM:255320
- King-Denborough syndrome, OMIM:619542
- Tags
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- Complete
- 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 Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RYR1 were changed from Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600 to Central core disease, OMIM:117000; Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000; Minicore myopathy with external ophthalmoplegia, OMIM:255320; King-Denborough syndrome, OMIM:619542
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RYR1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to RYR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for RYR1 were set to Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600
Set publications
Helen Brittain (Genomics England Curator)Publications for RYR1 were set to 26799446
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for RYR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)RYR1 was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()RYR1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()RYR1 was added to Congenital myopathypanel. Sources: UKGTN