Muscular dystrophy and myopathy_Paediatric

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

Bryony Thompson (Royal Melbourne Hospital)

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

Mode of pathogenicity
Other

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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

History Filter Activity

15 May 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).

24 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr1 has been classified as Red List (Low Evidence).

24 Jun 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR1 were changed from to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)

24 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RYR1 were set to

24 Jun 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RYR1 was added gene: RYR1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR1 was set to Unknown