CHMP2B

charged multivesicular body protein 2B
OMIM: 609512
PanelMode of inheritanceDetails
2 panels
R-numbers: R56
Signed-off version 3.19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795, Dystonia