NOTCH2NL

notch 2 N-terminal like
Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

No list NOTCH2NL in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE
  • NIID
Tags
  • STR

No list NOTCH2NL in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE
  • NIID

Green NIID STR in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

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 NIID STR in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3

    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 NIID STR in Mendeliome


    Version 1.1902

    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 NIID STR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    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 NIID STR in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    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 NIID STR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    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 NIID STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    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 NIID STR in Repeat Disorders


    Version 0.167

    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