PanelApp (stage)
  1. Genes and Genomic Entities
  2. CCM2

CCM2

CCM2 scaffolding protein
OMIM: 607929, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CCM2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral cavernous malformations-2 MIM#603284

Red CCM2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Cerebral cavernous malformations-2, MIM#603284

    Amber CCM2 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Cerebral cavernous malformations-2, MIM# 603284
    Tags
    • SV/CNV

    Green CCM2 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebral cavernous malformations-2 MIM#603284

    Green CCM2 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Cerebral cavernous malformations 2
    • Cerebral Cavernous Malformation
    • Capillary malformation-arteriovenous malformation 608354
    • Cerebral Cavernous Malformations