Rhabdomyolysis and Metabolic 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

3 reviews

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia
Sources: Expert list
Created: 6 Oct 2020, 6:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Malignant hyperthermia susceptibility 1} MIM#145600

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene for the associated phenotypes including congenital myopathy. OMIM notes normal CK levels for the minicore myopathy with external ophthalmoplegia phenotype.

PMID: 23553484: Reported 11 patients from 9 families with severe RYR1-related myopathy. Hypotonia was consistently reported. CK levels within normal range. AD patients had classic central cores on muscle biopsy.

Rated RED in this gene list (PanelApp UK)
Created: 24 Jun 2020, 1:21 a.m. | Last Modified: 24 Jun 2020, 1:21 a.m.
Panel Version: 0.27

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • Central core disease, 117000
  • King-Denborough syndrome, 145600
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
  • Minicore myopathy with external ophthalmoplegia, 255320
OMIM
180901
Clinvar variants
Variants in RYR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 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).

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RYR1 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RYR1 was added gene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; King-Denborough syndrome, 145600; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Minicore myopathy with external ophthalmoplegia, 255320