Genomics England
GMS Panels
Panels
Genes and Entities
CHMP4B
charged multivesicular body protein 4B
OMIM:
610897
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Bilateral congenital or childhood onset cataracts
R-numbers:
R31
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract 31, multiple types, 605387