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  2. Congenital muscular dystrophy and congenital myopathy
  3. RYR3
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: RYR3

Green List (high evidence)
RYR3 (ryanodine receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000198838
EnsemblGeneIds (GRCh37): ENSG00000198838
OMIM: 180903, Gene2Phenotype
RYR3 is in 5 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Created: 5 Dec 2019, 3:01 p.m.
Last Modified: 5 Dec 2019, 3:01 p.m.
Copied from panel: Congenital myopathy v3.88

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Created: 5 Dec 2019, 4:35 p.m. | Last Modified: 5 Dec 2019, 4:38 p.m.
Panel Version: 1.225
Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Created: 4 Dec 2019, 1:41 p.m. | Last Modified: 4 Dec 2019, 1:41 p.m.
Panel Version: 1.217
gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive missense variants were identified in a patient with childhood-onset nemaline myopathy. Nilipour Y, Nafissi S, Tjust AE, et al. : Ryanodine receptor type 3 ( RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018;25(6):841–7.
Sources: Expert Review, NHS GMS
Created: 4 Dec 2019, 1:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
childhood-onset nemaline myopathy

Publications

Created: 4 Dec 2019, 1:41 p.m.
Last Modified: 5 Dec 2019, 4:38 p.m.
Copied from panel: Congenital myopathy v3.88

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • NHS GMS
Phenotypes
  • Congenital myopathy 20, OMIM:620310
  • Nemaline myopathy, MONDO:0018958
OMIM
180903
Clinvar variants
Variants in RYR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Dec 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RYR3 were changed from Congenital myopathy 20, OMIM:620310 to Congenital myopathy 20, OMIM:620310; Nemaline myopathy, MONDO:0018958

16 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RYR3 were changed from Nemaline myopathy, MONDO:0018958 to Congenital myopathy 20, OMIM:620310

16 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: RYR3.

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: RYR3 was added gene: RYR3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review,Expert Review Green gene-checked tags were added to gene: RYR3. Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR3 were set to 29498452 Phenotypes for gene: RYR3 were set to Nemaline myopathy, MONDO:0018958