CCM2

CCM2 scaffolding protein
OMIM: 607929, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CCM2 in Cerebral vascular malformations


Level 2: Neurology
Version 5.1
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Cerebral cavernous malformations-2, OMIM:603284