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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.120 RYR1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.120 RYR1 Ellen McDonagh Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Marked gene: RYR1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Classified gene: RYR1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 RYR1 Chiara Marini Bettolo commented on gene: RYR1: Variable disease spectrum from congenital myopathy, metabolic myopathy, MH. Differential diagnosis with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 RYR1 Louise Daugherty Source Yorkshire and North East GLH was added to RYR1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.72 RYR1 Louise Daugherty Phenotypes for gene: RYR1 were changed from Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 to Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000; congenital myopathy; malignant hyperthermia
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RYR1 Chiara Marini Bettolo edited their review of gene: RYR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RYR1 Chiara Marini Bettolo reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8220422, 8220423; Phenotypes: congenital myopathy, Central core disease, malignant hyperthermia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 RYR1 Louise Daugherty Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 for gene: RYR1
Publications for gene RYR1 were changed from to 8220422; 8220423
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 RYR1 Ana Topf reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8220422, 8220423; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Central core disease, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 RYR1 Louise Daugherty gene: RYR1 was added
gene: RYR1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RYR1 was set to