DYSF

dysferlin
OMIM: 603009, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green DYSF in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Miyoshi muscular dystrophy 1, 254130
    Green DYSF in Rhabdomyolysis and metabolic muscle disorders

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.48
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Miyoshi muscular dystrophy 1, OMIM:254130
    • Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601
    • Myopathy, distal, with anterior tibial onset, OMIM:606768
    Green DYSF in Other rare neuromuscular disorders


    Version 19.199
    Latest signed off version: v19.1 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Miyoshi muscular dystrophy 1, 254130
    • Limb-girdle muscular dystrophy
    • Miyoshi muscular dystrophy 1 254130
    • Muscular dystrophy, limb-girdle, type 2B, 253601
    • Miyoshi muscular dystrophy 1
    • Muscular dystrophy, limb-girdle, type 2B 253601
    • Myopathy, distal, with anterior tibial onset, 606768
    • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
    • Myopathy, distal, with anterior tibial onset 606768
    • Limb-Girdle Muscular Dystrophy, Recessive
    Amber DYSF in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Miyoshi muscular dystrophy 1, OMIM:254130
    • Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601
    • Myopathy, distal, with anterior tibial onset, OMIM:606768
    Red DYSF in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
    • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768
    • Miyoshi muscular dystrophy 1, 254130
    • Limb-Girdle Muscular Dystrophy, Recessive
    Red DYSF in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.36
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Miyoshi muscular dystrophy 1 254130
    • Muscular dystrophy, limb-girdle, type 2B 253601
    • Myopathy, distal, with anterior tibial onset 606768
    Green DYSF in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
    • Limb-Girdle Muscular Dystrophy, Recessive
    • Limb-girdle muscular dystrophy
    Green DYSF in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, distal, with anterior tibial onset, 606768
    • Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601
    • Miyoshi muscular dystrophy 1, 254130
    Green DYSF in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Miyoshi muscular dystrophy 1, OMIM:254130
    • Myopathy, distal, with anterior tibial onset, OMIM:606768
    • Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601