Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: RYR1
Distal myopathy has been reported as a presenting feature of both monoallelic and biallelic RYR1-related myopathy
Sources: LiteratureCreated: 7 Jun 2023, 6:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
calf predominant distal myopathy; distal myopathy MONDO:0018949
Publications
Variants in this GENE are reported as part of current diagnostic practice
Variants in this gene also cause a range of myopathies.Created: 16 May 2022, 7:39 a.m. | Last Modified: 16 May 2022, 7:39 a.m.
Panel Version: 0.14357
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease, MIM# 117000; King-Denborough syndrome , MIM#619542; Minicore myopathy with external ophthalmoplegia , MIM#255320; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Gene: ryr1 has been classified as Green List (High Evidence).
Gene: ryr1 has been classified as Green List (High Evidence).
gene: RYR1 was added gene: RYR1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 30842289; 33458580 Phenotypes for gene: RYR1 were set to calf predominant distal myopathy; distal myopathy MONDO:0018949 Review for gene: RYR1 was set to GREEN gene: RYR1 was marked as current diagnostic