Incidentalome_PREGEN_DRAFT
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- 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
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RYR1 was added gene: RYR1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: RYR1 was set to Unknown