Rhabdomyolysis and metabolic muscle disorders

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P for Minicore myopathy with external ophthalmoplegia 255320. Numerous variants reported in Malignant hyperthermia susceptibility 1 (145600), Minicore myopathy with external ophthalmoplegia (255320) and Central core disease (117000)
Created: 5 Dec 2016, 12:04 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • Central core disease, 117000
  • Minicore myopathy with external ophthalmoplegia, 255320
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
OMIM
180901
Clinvar variants
Variants in RYR1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600

27 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: UKGTN

27 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RYR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Radboud University Medical Center, Nijmegen