Neuromuscular arthrogryposis
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
3 reviews
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test groupCreated: 16 May 2019, 9:33 p.m.
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 6:36 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- Neuromuscular disease, congenital, with uniform type 1 fiber 117000
- Malignant hyperthermia susceptibility 1 145600
- Central core disease 117000
- Minicore myopathy with external ophthalmoplegia 255320
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Malignant hyperthermia
- Likely inborn error of metabolism
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myaesthenic syndrome
- Clefting
- Undiagnosed metabolic disorders
- Skeletal muscle channelopathy
- Fetal hydrops
- Arthrogryposis
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Congenital myopathy
- Fetal anomalies
- DDG2P
- Skeletal Muscle Channelopathies
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RYR1.
Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Source London South GLH was added to RYR1. Mode of inheritance for gene RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600; Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320 for gene: RYR1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to RYR1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set publications
Louise Daugherty (Genomics England Curator)gene: RYR1 was added gene: RYR1 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 29169929; 23553484