Muscular dystrophy and myopathy_Paediatric
Gene: RYR1
Congenital myopathy is reported in both dominant and recessive forms. Loss of function is the disease mechanism for recessive RYR1-related myopathy, whereas gain-of-function is typically the mechanism for dominant disease.Created: 15 May 2023, 6:55 a.m. | Last Modified: 15 May 2023, 6:55 a.m.
Panel Version: 0.145
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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
RYR1-related myopathy MONDO:0100150
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Not a muscular dystrophy.Created: 24 Jun 2020, 8:52 a.m. | Last Modified: 24 Jun 2020, 8:52 a.m.
Panel Version: 0.33
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).
Gene: ryr1 has been classified as Red List (Low Evidence).
Phenotypes for gene: RYR1 were changed from to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)
Publications for gene: RYR1 were set to
Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ryr1 has been classified as Red List (Low Evidence).
gene: RYR1 was added gene: RYR1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR1 was set to Unknown