MYOT

myotilin
OMIM: 604103, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MYOT in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.33
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myopathy, myofibrillar 3, 609200

    Green MYOT in Neuromuscular disorders


    Version 5.255
    Latest signed off version: v5.43 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Myopathy, myofibrillar, 3 609200
    • Limb-Girdle Muscular Dystrophy, Dominant
    • Muscular dystrophy, limb-girdle, type 1A, 159000
    • Limb-girdle muscular dystrophy
    • Muscular dystrophy, limb-girdle, type 1A 159000
    • Myopathy, spheroid body 182920

    Red MYOT in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.137
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Spheroid Body Myopathy
    • Muscular dystrophy, limb-girdle, type 1A, 159000

    Red MYOT in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.64
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Muscular dystrophy, limb-girdle, type 1A 159000
    • Myopathy, myofibrillar, 3 609200
    • Myopathy, spheroid body 182920

    Green MYOT in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.32
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Limb-Girdle Muscular Dystrophy, Dominant
    • Muscular dystrophy, limb-girdle, type 1A, 159000
    • Limb-girdle muscular dystrophy

    Green MYOT in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, spheroid body, 182920
    • Myopathy, myofibrillar, 3, 609200