Congenital myopathy

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600

Publications

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Clear evidence of causation. AD and AR inheritance
Created: 3 Feb 2017, 11:18 a.m.
Comment on mode of inheritance: Caution re malignant hyperthermia susceptibility (even in unaffected carriers). Potentially actionable
Created: 3 Feb 2017, 11:17 a.m.
Comment on list classification: RYR1 a recognised cause of central core disease. Tagged as pharmacogenetic / treatable in view of the need to highlight risk of MHS (malignant hyperthermia susceptibility) in affected individuals and potentially unaffected carriers
Created: 3 Feb 2017, 11:16 a.m.
Well established causal role with congenital myopathy associated with central cores. AR or AD inheritance. Important to recognise that phenotype of RYR1 mutations can also include Malignant Hyperthermia susceptibility, which could also be of clinical relevance to healthy carriers where AR inheritance is relevant within the family.
Created: 30 Jan 2017, 11:27 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Central core disease 117000
  • Minicore myopathy with external ophthalmoplegia 255320
  • Neuromuscular disease, congenital, with uniform type 1 fiber 117000
  • Malignant hyperthermia susceptibility 1 145600
Tags
treatable pharmacogenetics
OMIM
180901
Clinvar variants
Variants in RYR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RYR1.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to RYR1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for RYR1 were set to 26799446

3 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

13 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

RYR1 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RYR1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RYR1 was added to Congenital myopathypanel. Sources: UKGTN