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, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
* Fetal akinesia deformation sequence related to RYR1 - (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
* Central core disease - CCD (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
* centronuclear myopathy, recessive - (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
* minicore myopathy with external ophthalmoplegia - (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)