DNM2

dynamin 2
OMIM: 602378, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green DNM2 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Signed off v.1.21 on 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 5.92
    Signed off v.5.43 on 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 1.3
    Signed off v.1.2 on 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 3.46
    Signed off v.3.2 on 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 2.20
    Signed off v.2.2 on 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 2.15
    Signed off v.2.4 on 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 1.440

    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 2.50
    Signed off v.2.3 on 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 1.21
    Signed off v.1.17 on 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

    Green DNM2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.381

    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 3.714
    Signed off v.3.2 on 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
    • Expert Review Amber
    • 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 2.12
    Signed off v.2.4 on 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 1.19
    Signed off v.1.2 on 27 Feb 2020

    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 1.42

    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