Skeletal muscle channelopathy
Gene: RYR1
Only analyse RYR1 if patient has been seen in muscle channelopathy clinic at NHNN or if discussed with the muscle channel clinical team.Created: 25 Oct 2019, 12:31 p.m. | Last Modified: 25 Oct 2019, 12:31 p.m.
Panel Version: 0.15
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant)
Publications
Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Publications for gene RYR1 were changed from to 12136074; 16163667; 20839240
Source NHS GMS was added to RYR1.
Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) for gene: RYR1
Source Expert Review Green was added to RYR1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RYR1 was added gene: RYR1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: RYR1 was set to