Fetal hydrops

Gene: RYR1

No list

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops.
Sources: Expert list
Created: 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

History Filter Activity

30 Dec 2019, Gel status: 0

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