RYR1

ryanodine receptor 1
OMIM: 180901
PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Malignant hyperthermia susceptibility 1}, 145600, congenital muscular dystrophies, Minicore myopathy with external ophthalmoplegia 255320
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease 117000, Minicore myopathy with external ophthalmoplegia 255320, Neuromuscular disease, congenital, with uniform type 1 fiber 117000, Malignant hyperthermia susceptibility 1 145600
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
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
R-numbers: R76
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease , 11700 (Dominant & recessive), Minicore myopathy with external ophthalmoplegia, 255320 (recessive), Malignant hyperthermia susceptibility 1, 145600 (Dominant)