Arthrogryposis
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Can present with arthrogryposis -especially with recessive forms which can be more severeCreated: 22 Dec 2016, 10:26 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 Green
- Emory Genetics Laboratory
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- {Malignant hyperthermia susceptibility 1}, 145600
- congenital muscular dystrophies
- Minicore myopathy with external ophthalmoplegia 255320
- 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
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for RYR1 were set to ; {Malignant hyperthermia susceptibility 1}, 145600; congenital muscular dystrophies; Minicore myopathy with external ophthalmoplegia 255320
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory RYR1 was added to Arthrogryposispanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Arthrogryposispanel. Source: UKGTN RYR1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen RYR1 was added to Arthrogryposispanel. Source: Expert
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)RYR1 was created by ellenmcdonagh