Hydrops fetalis

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops.
Created: 30 Dec 2019, 7:24 a.m. | Last Modified: 30 Dec 2019, 7:24 a.m.
Panel Version: 0.90

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Central core disease, MIM# 117000; Multiple pterygium syndrome

Publications

History Filter Activity

30 Dec 2019, 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).

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR1 were changed from to Central core disease, MIM# 117000; Multiple pterygium syndrome

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RYR1 were set to

30 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, 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 Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR1 was set to Unknown