Skeletal Muscle Channelopathies
Gene: RYR1
RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
1 review
Arianna Tucci (Genomics England Curator)
This gene was added after discussion with the expert reviewer Dr Matthews (UCL Institute of Neurology). Please note both AD and AR inheritance, and the risk of malignant hyperthermia susceptibility in affected individuals and potentially unaffected carriers.Created: 21 Feb 2017, 1:41 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Congenital myopathy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Acute rhabdomyolysis
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Congenital myaesthenic syndrome
- Undiagnosed metabolic disorders
- Malignant hyperthermia
- Clefting
- Likely inborn error of metabolism
- Skeletal muscle channelopathy
- Fetal hydrops
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)RYR1 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review
21 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)RYR1 was created by arianna