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) |