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| Severe Paediatric Disorders v0.12 | RYR1 | Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | RYR1 | Louise Daugherty Publications for gene RYR1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | RYR1 | Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | RYR1 | Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | RYR1 | Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | RYR1 | Louise Daugherty Added phenotypes Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; King-Denborough syndrome, 145600 for gene: RYR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | 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, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1 |
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| Severe Paediatric Disorders v0.7 | RYR1 | Louise Daugherty Source Next Generation Children Project was added to RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | 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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| Severe Paediatric Disorders v0.4 | RYR1 |
Louise Daugherty gene: RYR1 was added gene: RYR1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RYR1 was set to |
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