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Inborn errors of metabolism

Gene: RYR1

Amber List (moderate evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 18 panels

1 review

Arianna Tucci (Genomics England Curator)

I don't know

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: RYR1 was added gene: RYR1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Rhabdomyolysis and metabolic muscle disorders