Rhabdomyolysis and metabolic muscle disorders
Gene: RYR1Comment 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.
Mode of inheritance for RYR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
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
RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: UKGTN
RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory
Model of inheritance for gene RYR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services
RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Radboud University Medical Center, Nijmegen