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  1. Genes and Genomic Entities
  2. C9orf72_FTDALS_GGGGCC

C9orf72_FTDALS_GGGGCC

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green C9orf72_FTDALS_GGGGCC 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
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

    Green C9orf72_FTDALS_GGGGCC STR in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

    Green C9orf72_FTDALS_GGGGCC 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
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

    Green C9orf72_FTDALS_GGGGCC STR in Incidentalome


    Version 0.316

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

    Green C9orf72_FTDALS_GGGGCC STR in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.280

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

    Green C9orf72_FTDALS_GGGGCC 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
    • frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105

    Green C9orf72_FTDALS_GGGGCC STR in Repeat Disorders


    Version 0.256

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
    Tags
    • adult-onset