1. Genes and Genomic Entities
  2. CHMP2B

CHMP2B

charged multivesicular body protein 2B
OMIM: 609512, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CHMP2B in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Frontotemporal Dementia
  • Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696
Green CHMP2B in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • familial frontotemporal lobar degeneration (ALS17)
Green CHMP2B in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.21
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795
    • Dystonia
    Red CHMP2B in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dementia, familial, nonspecific, 600795
    • Amyotrophic lateral sclerosis 17, 614696
    Green CHMP2B in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
    Red CHMP2B in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.25
    Latest signed off version: v7.0 (30 Apr 2025)

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