CCM2

CCM2 scaffolding protein
OMIM: 607929, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green CCM2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.8
Signed off v.2.2 on 2 Mar 2020

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 603284
  • Capillary malformation-arteriovenous malformation 608354