Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Distal myopathy has been reported as a presenting feature of both monoallelic and biallelic RYR1-related myopathy
Sources: Literature
Created: 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ryr1 has been classified as Green List (High Evidence).

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ryr1 has been classified as Green List (High Evidence).

7 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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