Congenital muscular dystrophy
Gene: RYR1Comment 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
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.
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
Gene: ryr1 has been classified as Red List (Low Evidence).
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
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
Mode of inheritance for RYR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RYR1 was added to Congenital muscular dystrophypanel. Source:
RYR1 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory