Congenital ophthalmoplegia
Gene: RYR1
RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
ophthalmoplegia is a common features. Also presents with congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy,
Sources: LiteratureCreated: 16 Nov 2020, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Minicore myopathy with external ophthalmoplegia 255320
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Minicore myopathy with external ophthalmoplegia 255320
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- 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
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ryr1 has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ryr1 has been classified as Green List (High Evidence).
16 Nov 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: RYR1 was added gene: RYR1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia 255320 Review for gene: RYR1 was set to GREEN