Acute rhabdomyolysis

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 20 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6

History Filter Activity

19 Jan 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: RYR1 was added gene: RYR1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 34348614; 21514828; 29298851; 33250373; 34414986 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, OMIM:117000