Rhabdomyolysis and Metabolic Myopathy

Gene: RYR1

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

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

• 20301325

Mode of pathogenicity
Other

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

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

• 23553484