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 4.10
Latest signed off version: v4.0 (30 Apr 2025)

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