Genomics England
GMS Panels
Panels
Genes and Entities

CHMP2B

charged multivesicular body protein 2B
OMIM: 609512
PanelMode of inheritanceDetails
2 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795, Dystonia