Cerebral vascular malformations
Gene: CCM2EnsemblGeneIds (GRCh38): ENSG00000136280
EnsemblGeneIds (GRCh37): ENSG00000136280
OMIM: 607929, Gene2Phenotype
CCM2 is in 1 panel
2 reviews
Louise Daugherty (Genomics England Curator)
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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Cerebral cavernous malformations-2, OMIM:603284
- OMIM
- 607929
- Clinvar variants
- Variants in CCM2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations-2 603284; Capillary malformation-arteriovenous malformation 608354 to Cerebral cavernous malformations-2, OMIM:603284
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CCM2 were set to 20301470; 14624391
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CCM2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CCM2.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CCM2 were set to 20301470, 14624391
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CCM2 were set to Cerebral Cavernous Malformation; Cerebral cavernous malformations 2; Cerebral Cavernous Malformations;Capillary malformation-arteriovenous malformation 608354
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CCM2 were set to 20301470, 14624391
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CCM2 was added to Cerebrovascular disorderspanel. Source: UKGTN
Created
Ellen McDonagh (Genomics England Curator)CCM2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CCM2 was added to Cerebrovascular disorderspanel. Sources: Emory Genetics Laboratory