Rhabdomyolysis and Metabolic Myopathy
Gene: RYR1
Variants in this gene also cause a range of myopathies.Created: 16 May 2022, 7:39 a.m. | Last Modified: 16 May 2022, 7:39 a.m.
Panel Version: 0.14357
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease, MIM# 117000; King-Denborough syndrome , MIM#619542; Minicore myopathy with external ophthalmoplegia , MIM#255320; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia
Sources: Expert listCreated: 6 Oct 2020, 6:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Malignant hyperthermia susceptibility 1} MIM#145600
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Well established gene for the associated phenotypes including congenital myopathy. OMIM notes normal CK levels for the minicore myopathy with external ophthalmoplegia phenotype.
PMID: 23553484: Reported 11 patients from 9 families with severe RYR1-related myopathy. Hypotonia was consistently reported. CK levels within normal range. AD patients had classic central cores on muscle biopsy.
Rated RED in this gene list (PanelApp UK)Created: 24 Jun 2020, 1:21 a.m. | Last Modified: 24 Jun 2020, 1:21 a.m.
Panel Version: 0.27
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)
Publications
Gene: ryr1 has been classified as Green List (High Evidence).
Publications for gene: RYR1 were set to
gene: RYR1 was added gene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; King-Denborough syndrome, 145600; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Minicore myopathy with external ophthalmoplegia, 255320