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 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Central core disease - CCD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* centronuclear myopathy, recessive - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)

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 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1) * Central core disease - CCD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1) * Malignant hyperthermia susceptibility 1 - MHS1 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1) * centronuclear myopathy, recessive - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1) * minicore myopathy with external ophthalmoplegia - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)