Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Distal myopathy has been reported as a presenting feature of both monoallelic and biallelic RYR1-related myopathy
Sources: LiteratureCreated: 7 Jun 2023, 6:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
calf predominant distal myopathy; distal myopathy MONDO:0018949
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene also cause a range of myopathies.Created: 16 May 2022, 7:39 a.m. | Last Modified: 16 May 2022, 7:39 a.m.
Panel Version: 0.14357
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease, MIM# 117000; King-Denborough syndrome , MIM#619542; Minicore myopathy with external ophthalmoplegia , MIM#255320; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- calf predominant distal myopathy
- distal myopathy MONDO:0018949
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal Muscle Channelopathies
- Malignant Hyperthermia Susceptibility
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Clefting disorders
- Prepair 1000+
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Congenital ophthalmoplegia
- Transplant Co-Morbidity Superpanel
- Multiple pterygium syndrome_Fetal akinesia sequence
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Pharmacogenomics_Paediatric
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ryr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ryr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RYR1 was added gene: RYR1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 30842289; 33458580 Phenotypes for gene: RYR1 were set to calf predominant distal myopathy; distal myopathy MONDO:0018949 Review for gene: RYR1 was set to GREEN gene: RYR1 was marked as current diagnostic