Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
RYR1
Ryanodine receptor 1 (skeletal)




19q13.1
* myopathy, congenital, with fiber-type disproportion - CFTD (2.50, 3.24, 3.26, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Fetal akinesia deformation sequence related to RYR1 - (2.50, 3.24, 3.24, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Central core disease - CCD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Dusty core disease related to RYR1 - DuCD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* centronuclear myopathy, recessive - (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* minicore myopathy with external ophthalmoplegia - (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
* Congenital myopathy 1B, recessive - CMYP1B (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)