Genomics England
GMS Panels
Panels
Genes and Entities

CHMP4B

charged multivesicular body protein 4B
OMIM: 610897
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 31, multiple types, 605387