Cerebral vascular malformations
Gene: CCM2
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:57 p.m. | Last Modified: 29 Nov 2019, 6:57 p.m.
Panel Version: 1.67
Comment on list classification: Widely offered as a diagnostic test. GeneReviews estimated 20% of familial cavernous malformations caused by mutations in CCM2Created: 12 Dec 2016, 9:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation 608354
Publications
Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations-2 603284; Capillary malformation-arteriovenous malformation 608354 to Cerebral cavernous malformations-2, OMIM:603284
Phenotypes for gene: CCM2 were changed from Cerebral Cavernous Malformation; Cerebral cavernous malformations 2; Cerebral Cavernous Malformations; Capillary malformation-arteriovenous malformation 608354 to Cerebral cavernous malformations-2 603284; Capillary malformation-arteriovenous malformation 608354
Publications for gene: CCM2 were set to 20301470; 14624391
Source Yorkshire and North East GLH was added to CCM2.
Source NHS GMS was added to CCM2.
Publications for gene: CCM2 were set to 20301470, 14624391
Phenotypes for CCM2 were set to Cerebral Cavernous Malformation; Cerebral cavernous malformations 2; Cerebral Cavernous Malformations;Capillary malformation-arteriovenous malformation 608354
Publications for CCM2 were set to 20301470, 14624391
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CCM2 was added to Cerebrovascular disorderspanel. Source: UKGTN
CCM2 was created by ellenmcdonagh
CCM2 was added to Cerebrovascular disorderspanel. Sources: Emory Genetics Laboratory