Cerebral vascular malformations
Gene: CCM2

CCM2 (CCM2 scaffolding protein)
EnsemblGeneIds (GRCh38): ENSG00000136280
EnsemblGeneIds (GRCh37): ENSG00000136280
OMIM: 607929, Gene2Phenotype
CCM2 is in 5 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

CCM is a prominent feature of the condition and 20% affected individuals have pathogenic variants in CCM2.
77.6-kb deletion including exons 2-10 is a founder variant in the North American population.
Created: 18 Nov 2024, 12:23 a.m. | Last Modified: 18 Nov 2024, 12:23 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
famililal cerebral cavernous malformations MONDO:0031037

Publications

20301470

Created: 18 Nov 2024, 12:23 a.m.
Last Modified: 18 Nov 2024, 12:23 a.m.
Panel version: 0.39

Details

Mode of Inheritance

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

OMIM

607929

Clinvar variants

Variants in CCM2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCM2 was added gene: CCM2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCM2 were set to 14624391; 20301470 Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations 2; Cerebral Cavernous Malformation; Capillary malformation-arteriovenous malformation 608354; Cerebral Cavernous Malformations

Cerebral vascular malformations Gene: CCM2