Cerebral vascular malformations
Gene: CCM2
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
Established associationCreated: 4 Apr 2022, 7:02 a.m. | Last Modified: 4 Apr 2022, 7:02 a.m.
Panel Version: 0.12559
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral cavernous malformations-2 MIM#603284
Publications
Variants in this GENE are reported as part of current diagnostic practice
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