NOTCH2NLC_NIID_GGC

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green NOTCH2NLC_NIID_GGC STR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.39

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.35

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Mendeliome


    Version 1.2511

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.577

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.147

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.58

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866

    Green NOTCH2NLC_NIID_GGC STR in Repeat Disorders


    Version 0.256

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuronal intranuclear inclusion disease MIM#603472
    • Oculopharyngodistal myopathy 3 MIM#619473
    • Tremor, hereditary essential, 6 MIM#618866
    Tags
    • adult-onset