DNM2

dynamin 2
OMIM: 602378, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green DNM2 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.31
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
    • Expert Review
    Phenotypes
    • Myopathy, centronuclear, 160150

    Green DNM2 in Neuromuscular disorders


    Version 5.243
    Latest signed off version: v5.43 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2M, 606482
    • Myopathy, centronuclear, 160150
    • Myopathy, centronuclear,

    Green DNM2 in Mitochondrial DNA maintenance disorder


    Version 1.4
    Latest signed off version: v1.2 (17 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
    • Charcot-Marie-Tooth disease, axonal type 2M, 606482
    • Centronuclear myopathy 1, 160150

    Green DNM2 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.130
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Lethal congenital contracture syndrome 5 615368

    Green DNM2 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.59
    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
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Myopathy, centronuclear, 160150
    • Charcot-Marie-Tooth disease, axonal, type 2M, 606482
    Tags
    • missense

    Red DNM2 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.29
    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 Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Centronuclear myopathy 1, 160150
    • Centronuclear myopathy

    Green DNM2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Centronuclear myopathy 1 160150
    • Charcot-Marie-Tooth disease, axonal type 2M 606482
    • Charcot-Marie-Tooth disease, dominant intermediate B 606482

    Green DNM2 in Inborn errors of metabolism


    Version 2.188
    Latest signed off version: v2.3 (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 Green
    • NHS GMS
    Phenotypes
    • Centronuclear myopathy 1 160150
    • Charcot-Marie-Tooth disease, axonal type 2M 606482
    • Charcot-Marie-Tooth disease, dominant intermediate B 606482

    Green DNM2 in Possible mitochondrial disorder - nuclear genes


    Version 1.53
    Latest signed off version: v1.17 (11 Nov 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
    • Charcot-Marie-Tooth disease, axonal type 2M, 606482
    • Centronuclear myopathy 1, 160150

    Amber DNM2 in Fetal anomalies


    Version 1.735
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Lethal congenital contracture syndrome 5, 615368
    Tags
    • for-review

    Green DNM2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.417

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Charcot Marie Tooth disease, dominant intermediate B, 606482
    • Myopathy, centronuclear, 160150
    • Myopathy, centronuclear, 160150
    • Lethal congenital contracture syndrome 5, 615368
    • Charcot Marie Tooth disease, axonal, type 2M, 606482
    • Charcot-Marie-Tooth, Intermediate
    • Lethal congenital contracture syndrome 5, 615368
    • Charcot Marie Tooth disease, axonal, type 2M, 606482
    • Charcot-Marie-Tooth, Intermediate

    Red DNM2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1378
    Latest signed off version: v3.2 (13 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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Charcot Marie Tooth disease, axonal, type 2M, 606482
    • Charcot Marie Tooth disease, dominant intermediate B, 606482

    Green DNM2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Centronuclear myopathy 1, 160150
    • Charcot-Marie-Tooth disease, axonal type 2M, 606482
    • Charcot-Marie-Tooth disease, dominant intermediate B, 606482

    Green DNM2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.64
    Latest signed off version: v1.36 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, dominant intermediate B, 606482
    • Lethal congenital contracture syndrome 5, 615368
    • Charcot Marie Tooth disease, axonal, type 2M, 606482
    • Myopathy, centronuclear, 160150
    • Charcot-Marie-Tooth, Intermediate

    Green DNM2 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lethal congenital contracture syndrome 5, 615368
    • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
    • Charcot-Marie-Tooth disease, axonal type 2M, 606482
    • Centronuclear myopathy 1, 160150