Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: RYR1Comment 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
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
Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ryr1 has been classified as Green List (High Evidence).
Gene: ryr1 has been classified as Green List (High Evidence).
Source NHS GMS was added to RYR1.
Source Yorkshire and North East GLH was added to RYR1.
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
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
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