Genomics England
GMS Panels
Panels
Genes and Entities

CCM2

CCM2 scaffolding protein
OMIM: 607929
PanelMode of inheritanceDetails
1 panel
Green
in Cerebral vascular malformations
R-numbers: R336
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral cavernous malformations-2, OMIM:603284