DNM2

dynamin 2
OMIM: 602378, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red DNM2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review Unknown
    Sources
    • Expert list
    • Expert Review Red
    Phenotypes
    • Lethal congenital contracture syndrome 5, MIM# 615368

    Red DNM2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.400

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Cerebral palsy MONDO:0006497

    Green DNM2 in Mendeliome


    Version 1.3512

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
    • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
    • MONDO:0011674
    • Autosomal dominant centronuclear myopathy MONDO:0008048
    • Lethal congenital contracture syndrome 5, MIM# 615368

    Red DNM2 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Lethal congenital contracture syndrome 5, MIM# 615368

    Green DNM2 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autosomal dominant centronuclear myopathy MONDO:0008048

    Green DNM2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
    • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
    • Lethal congenital contracture syndrome 5, MIM# 615368

    Red DNM2 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.15

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Complicated hereditary spastic paraplegia

    Green DNM2 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
    • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
    • MONDO:0011674

    Green DNM2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • autosomal dominant centronuclear myopathy MONDO:0008048

    Green DNM2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Myopathy, centronuclear
    • Charcot-Marie-Tooth disease, axonal, type 2M

    Red DNM2 in Fetal anomalies


    Version 1.465

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert Review
    Phenotypes
    • Lethal congenital contracture syndrome 5, MIM#615368

    Red DNM2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482