1. Genes and Genomic Entities
  2. MYOT

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 3.17
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myopathy, myofibrillar, 3, OMIM:609200
    • Myopathy, spheroid body, OMIM:182920
    Green MYOT in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		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 5.31
    Latest signed off version: v5.0 (22 Mar 2023)

    		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
    • Myopathy, myofibrillar, 3, OMIM:609200
    • Myopathy, spheroid body, OMIM:182920
    Red MYOT in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • Myopathy, myofibrillar, 3, OMIM:609200
    • Myopathy, spheroid body, OMIM:182920
    Green MYOT in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • Myopathy, myofibrillar, 3, OMIM:609200
    • Myopathy, spheroid body, OMIM:182920
    Green MYOT in Severe Paediatric Disorders


    Version 1.184

    		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