RYR1

ryanodine receptor 1
OMIM: 180901, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green RYR1 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.21

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review

No list RYR1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.23

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Central core disease, MIM# 117000
  • Multiple pterygium syndrome

Green RYR1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.43
Signed off v.1.34 on 4 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review 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

    Green RYR1 in Neuromuscular disorders


    Version 5.58
    Signed off v.5.43 on 4 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Central core disease, 117000
    • Neuromuscular disease, congenital, with uniform type 1 fiber
    • Malignant hyperthermia susceptibility 1 145600
    • Minicore myopathy with external ophthalmoplegia, 255320
    • Neuromuscular disease, congenital, with uniform type 1 fiber 117000
    • Central core disease 117000
    • Minicore myopathy with external ophthalmoplegia 255320
    • Minicore myopathy with external ophthalmoplegia
    • {Malignant hyperthermia susceptibility 1}, 145600
    • congenital muscular dystrophies
    • Central core disease
    • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600

    Red RYR1 in Paroxysmal central nervous system disorders


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Central core disease of muscle, 117000

    Red RYR1 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • congenital muscular dystrophies
    • Central core disease
    • Minicore myopathy with external ophthalmoplegia
    • Neuromuscular disease, congenital, with uniform type 1 fiber

    Green RYR1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.15
    Signed off v.3.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • {Malignant hyperthermia susceptibility 1}, 145600
    • congenital muscular dystrophies
    • Minicore myopathy with external ophthalmoplegia 255320

    Green RYR1 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.7
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review 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
    • pharmacogenetics
    • treatable

    Green RYR1 in Skeletal muscle channelopathy


    Version 1.4
    Signed off v.1.2 on 2 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Central core disease , 11700 (Dominant & recessive)
    • Minicore myopathy with external ophthalmoplegia, 255320 (recessive)
    • Malignant hyperthermia susceptibility 1, 145600 (Dominant)

    Red RYR1 in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • RYR1-related congenital myopathy

    Green RYR1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8
    Signed off v.2.4 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
    • Central core disease, 117000
    • congenital myopathy
    • malignant hyperthermia

    Amber RYR1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.425

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Rhabdomyolysis and metabolic muscle disorders

    Amber RYR1 in Inborn errors of metabolism


    Version 2.24
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Rhabdomyolysis and metabolic muscle disorders

    Green RYR1 in Fetal anomalies


    Version 1.108
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

    Green RYR1 in DDG2P


    Version 2.11
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320

    Amber RYR1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.5
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • CENTRAL CORE DISEASE OF MUSCLE
    • CCD

    Red RYR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Red RYR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.62
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green RYR1 in Severe Paediatric Disorders


    Version 1.12

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Central core disease, 117000
    • King-Denborough syndrome, 145600
    • Minicore myopathy with external ophthalmoplegia, 255320
    • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000