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| Skeletal muscle channelopathy v1.15 | RYR1 | Eleanor Williams 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.14 | RYR1 | Eleanor Williams 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.17 | RYR1 | Louise Daugherty Publications for gene RYR1 were changed from to 12136074; 16163667; 20839240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.16 | RYR1 | Louise Daugherty Source NHS GMS was added to RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.15 | RYR1 | James Polke reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: Jungbluth et al 2002 Neurology 59, 284-7 PMID: 12136074, Wilmhurst et al 2010 Ann Neurol 68, 717-26 PMID: 20839240, Monnier et al 2005 Hum Mutat 26, 413-25 PMID: 16163667; Phenotypes: Central core disease , 11700 (Dominant & recessive), Minicore myopathy with external ophthalmoplegia, 255320 (recessive), Malignant hyperthermia susceptibility 1, 145600 (Dominant); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.14 | RYR1 |
Louise Daugherty 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 |
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| Skeletal muscle channelopathy v0.13 | RYR1 |
Louise Daugherty Source Expert Review Green was added to RYR1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Skeletal muscle channelopathy v0.12 | RYR1 |
Louise Daugherty gene: RYR1 was added gene: RYR1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: RYR1 was set to |
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