RYR1

ryanodine receptor 1
OMIM: 180901
PanelMode of inheritanceDetails
9 panels
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
R-numbers: R83
Signed-off version 6.0
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
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.37
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.32
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
R-numbers: R371
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 1}, OMIM:145600
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.0
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 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)