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Transplant Co-Morbidity Superpanel

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

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

RYR1 encodes the ryanodine receptor isoform 1, a calcium channel. It plays a critical role in calcium release and muscle contraction in skeletal muscle and is the primary locus for malignant hyperthermia susceptibility (MH). MH is a potentially lethal condition triggered by potent inhalational anesthetics and depolarizing muscle relaxants.

https://www.pharmgkb.org/vip/PA166169452/overview
Created: 25 Aug 2023, 4:55 a.m. | Last Modified: 25 Aug 2023, 4:55 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia MIM# 117000; Congenital myopathy 1B, autosomal recessive MIM# 255320; King-Denborough syndrome MIM# 619542; Malignant hyperthermia susceptibility MIM# 145600

History Filter Activity

1 Aug 2023, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RYR1 was added gene: RYR1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, MIM#145600