Fetal hydrops
Gene: RYR1EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
1 review
Zornitza Stark (Australian Genomics)
Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops.
Sources: Expert listCreated: 30 Dec 2019, 7:26 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease, MIM# 117000; Multiple pterygium syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Central core disease, MIM# 117000
- Multiple pterygium syndrome
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital myopathy
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Malignant hyperthermia
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Clefting
- Skeletal muscle channelopathy
- Fetal hydrops
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: RYR1 was added gene: RYR1 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 28543167; 26932181 Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Multiple pterygium syndrome Review for gene: RYR1 was set to GREEN gene: RYR1 was marked as current diagnostic