PanelApp
  1. Genes and Genomic Entities
  2. CHMP2B

CHMP2B

charged multivesicular body protein 2B
OMIM: 609512, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CHMP2B in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795
    • MONDO:0010936)

    Green CHMP2B in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

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

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)

    Green CHMP2B in Incidentalome


    Version 0.360

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795
    • MONDO:0010936)
    Tags
    • adult onset neurodegenerative

    Red CHMP2B in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • familial frontotemporal lobar degeneration (ALS17)
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
    • Dystonia

    Green CHMP2B in Incidentalome_PREGEN_DRAFT


    Version 0.43

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