Congenital muscular dystrophy

Gene: RYR1

Red List (low evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- this should not be on this panel
Created: 3 Dec 2019, 3:17 p.m. | Last Modified: 3 Dec 2019, 3:17 p.m.
Panel Version: 1.70

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and comment. It is a confirmed DD gene for MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA. It is a green gene on the Rhabdomyolysis and metabolic muscle disorders gene panel Version 1.0 and Arthrogryposis Version 1.279 gene panels.
Created: 6 Jan 2017, 9:52 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

more typically a myopathy presentation but there are several reports of RYR1 mutations in CMD like presentations so should probably be included.early scoliosis facial weakness +/- ophthalmoplegia
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
congenital muscular dystrophies

History Filter Activity

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for RYR1 were set to congenital muscular dystrophies;Central core disease;Minicore myopathy with external ophthalmoplegia;Neuromuscular disease, congenital, with uniform type 1 fiber

6 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory