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 (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
* Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
* Central core disease - CCD (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
* Dusty core disease related to RYR1 - DuCD (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
* centronuclear myopathy, recessive - (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
* minicore myopathy with external ophthalmoplegia - (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)