C9orf72

chromosome 9 open reading frame 72
OMIM: 614260, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

No list C9orf72 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.55

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
    Tags
    • STR

    No list C9orf72 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.49

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
    Tags
    • STR

    No list C9orf72 in Incidentalome


    Version 0.418

    2 reviews Unknown
    Sources
    • Expert Review Removed
    • Expert list
    • Victorian Clinical Genetics Services
    Tags
    • STR

    No list C9orf72 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550
    Tags
    • STR

    Green C9orf72 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green C9orf72_FTDALS_GGGGCC STR in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.55

    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 1.40

    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 2.49

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • 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 Incidentalome


    Version 0.418

    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 and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

  • Movement Disorders 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 Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105

    Green C9orf72_FTDALS_GGGGCC STR in Repeat Disorders


    Version 0.272

    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