PanelApp (stage)
  1. Genes and Genomic Entities
  2. RYR1

RYR1

ryanodine receptor 1
OMIM: 180901, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green RYR1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RYR1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Central core disease, MIM# 117000
    • Multiple pterygium syndrome

    Green RYR1 in Mendeliome


    Version 1.1891

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Malignant hyperthermia susceptibility 1} MIM#145600
    • Central core disease, MIM# 117000
    • King-Denborough syndrome , MIM#619542
    • Minicore myopathy with external ophthalmoplegia , MIM#255320
    • Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000

    Green RYR1 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fetal akinesia sequence

    Green RYR1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Central core disease (MIM#117000)
    • Minicore myopathy with external ophthalmoplegia (MIM#255320)
    • Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)

    Green RYR1 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • {Malignant hyperthermia susceptibility 1}, MIM#145600

    Green RYR1 in Skeletal Muscle Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Malignant hyperthermia

    Green RYR1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • calf predominant distal myopathy
    • distal myopathy MONDO:0018949

    Green RYR1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green RYR1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Minicore myopathy with external ophthalmoplegia, 255320 (3)

    Green RYR1 in Pharmacogenomics_Paediatric


    Level 2: Screening
    Version 0.50

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Malignant hyperthermia susceptibility 1} 145600

    Green RYR1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category B gene
    • BabySeq Category A gene
    Phenotypes
    • Malignant hyperthermia, multiminicore disease MIM#180901

    Red RYR1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • RYR1-related myopathy - MONDO:0100150

    Green RYR1 in Malignant Hyperthermia Susceptibility


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Malignant hyperthermia susceptibility 1} MIM#145600

    Green RYR1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Minicore myopathy with external ophthalmoplegia 255320

    Green RYR1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green RYR1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fetal akinesia sequence

    Green RYR1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
    • Central core disease, MIM# 117000

    Green RYR1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category B gene
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • {Malignant hyperthermia susceptibility 1} MIM#145600
    Tags
    • pharmacogenomic

    Green RYR1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • {Malignant hyperthermia susceptibility 1}, MIM#145600

    Green RYR1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Central core disease, MIM# 117000
    • Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000