Genomics England
GMS Panels
Panels
Genes and Entities

CHMP2B

charged multivesicular body protein 2B
OMIM: 609512
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795, Dystonia