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Malignant Hyperthermia Susceptibility

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia
Sources: Expert list
Created: 6 Oct 2020, 6:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Malignant hyperthermia susceptibility 1} MIM#145600

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ryr1 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ryr1 has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RYR1 was added gene: RYR1 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR1 were set to 20301325 Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} MIM#145600 Mode of pathogenicity for gene: RYR1 was set to Other Review for gene: RYR1 was set to GREEN