Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Malignant hyperthermia susceptibility 1 - (AD) | 8.1 | | | Ryanodine receptor 1 (skeletal)
|
|
| | * centronuclear myopathy, recessive | | * minicore myopathy with external ophthalmoplegia | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Fetal akinesia deformation sequence related to RYR1 | | * Dusty core disease related to RYR1 - DuCD | | * Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A | | * Congenital myopathy 1B, recessive - CMYP1B | | * Malignant hyperthermia susceptibility 1 - MHS1 | | * Central core disease - CCD |
|
Malignant hyperthermia susceptibility 2 - (AD) | 8.2 | | | | * Malignant hyperthermia susceptibility 2 - MHS2 |
|
Malignant hyperthermia susceptibility 3 - (AD) | 8.3 | | | | * Malignant hyperthermia susceptibility 3 - MHS3 |
|
Malignant hyperthermia susceptibility 4 - (AD) | 8.4 | | | | * Malignant hyperthermia susceptibility 4 - MHS4 |
|
Malignant hyperthermia susceptibility 5 - (AD) | 8.5 | | | Calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
| | * Hypokalemic periodic paralysis - CACNL1A3 | | * Congenital myopathy with ophthalmoplegia related to CACNA1S | | * Malignant hyperthermia susceptibility 5 - MHS5 | | * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 |
|
Malignant hyperthermia susceptibility 6 - (AD) | 8.6 | | | | * Malignant hyperthermia susceptibility 6 - MHS6 |
|