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DDG2P v3.12 | RYR1 | Achchuthan Shanmugasundram reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20839240; Phenotypes: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OMIM:255320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | RYR1 | Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | RYR1 |
Rebecca Foulger gene: RYR1 was added gene: RYR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 20839240 Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320 |