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Prepair 1000+

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

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

AD malignant hyperthermia (3x mutational hotspots)
AD or AR congenital myopathy (3 subtypes – defined by differences in muscle fibre changes)
All show variable expression ?reduced penetrance
Hypomorphic alleles associated with more severe disease, biallelic LOF variants not described – lethal in knockout mice
Not consistent link between AR disease being more severe, can have AD disease with severe neonatal onset and bi-allelic mutations identified with no muscle weakness
?Loss of function = severe congenital myopathy, MH = leaky ca2+ channels, gain of function phenotype (different appearance on muscle biopsy)
Created: 20 Aug 2022, 4:39 a.m. | Last Modified: 20 Aug 2022, 4:39 a.m.
Panel Version: 0.155

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hard to predict outcome in a screening context. However, multiple reports of severe perinatal outcomes.
Created: 26 Aug 2022, 6:51 a.m. | Last Modified: 26 Aug 2022, 6:51 a.m.
Panel Version: 0.164
Bi-allelic variants can cause severe, perinatal onset disease. Multiple reports.
Created: 17 Aug 2022, 7:02 a.m. | Last Modified: 17 Aug 2022, 7:02 a.m.
Panel Version: 0.135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene disease association but time consuming. Challenging from lab perspective. Multiple conditions associated with both AD/AR form of condition including one non-reportable phenotype (MH)

?clinical utility - consider for exclusion from a carrier screening panel
Created: 15 Jul 2022, 4:40 a.m. | Last Modified: 15 Jul 2022, 4:40 a.m.
Panel Version: 0.49

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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)

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000 for gene: RYR1

26 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RYR1 were set to

26 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: RYR1.

17 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR1 were changed from Minicore myopathy with external ophthalmoplegia, 255320 (3) to Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000

15 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: RYR1.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RYR1 was added gene: RYR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)