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Cerebral vascular malformations v0.39 CCM2 Sangavi Sivagnanasundram reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: famililal cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.0 CCM2 Zornitza Stark 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