Muscular dystrophy and myopathy_Paediatric

Gene: RYR1

Green List (high evidence)

Congenital myopathy is reported in both dominant and recessive forms. Loss of function is the disease mechanism for recessive RYR1-related myopathy, whereas gain-of-function is typically the mechanism for dominant disease.

Created: 15 May 2023, 6:55 a.m. | Last Modified: 15 May 2023, 6:55 a.m.

Panel Version: 0.145

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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
RYR1-related myopathy MONDO:0100150

Publications

• 22473935
• 30611313
• 8220422
• 12112081

Mode of pathogenicity
Other

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

Red List (low evidence)

Not a muscular dystrophy.

Created: 24 Jun 2020, 8:52 a.m. | Last Modified: 24 Jun 2020, 8:52 a.m.

Panel Version: 0.33

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