Congenital muscular dystrophy
Gene: RYR1EnsemblGeneIds (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 panelCreated: 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)
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 +/- ophthalmoplegiaCreated: 19 Dec 2016, 11:47 a.m.
Phenotypes
congenital muscular dystrophies
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- congenital muscular dystrophies
- Central core disease
- Minicore myopathy with external ophthalmoplegia
- Neuromuscular disease, congenital, with uniform type 1 fiber
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- Complete
- Panels with this gene
-
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Malignant hyperthermia
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Skeletal muscle channelopathy
- Fetal hydrops
- Clefting
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital myopathy
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: ryr1 has been classified as Red List (Low Evidence).
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RYR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory