Genomics England

RYR1

ryanodine receptor 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Malignant hyperthermia susceptibility 1}, 145600, Central core disease, OMIM:117000
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Malignant hyperthermia susceptibility 1}, 145600, congenital muscular dystrophies, Minicore myopathy with external ophthalmoplegia 255320
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.42	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Central core disease, 117000, congenital myopathy, malignant hyperthermia
Green in Malignant hyperthermia R-numbers: R371 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Malignant hyperthermia susceptibility 1}, OMIM:145600
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {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
Green in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Central core disease, OMIM:117000 (Dominant & recessive), Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive), Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)