Cerebral vascular malformations

Gene: CCM2

Green List (high evidence)

CCM2 (CCM2 scaffolding protein)
EnsemblGeneIds (GRCh38): ENSG00000136280
EnsemblGeneIds (GRCh37): ENSG00000136280
OMIM: 607929, Gene2Phenotype
CCM2 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 29 Nov 2019, 6:57 p.m. | Last Modified: 29 Nov 2019, 6:57 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Widely offered as a diagnostic test. GeneReviews estimated 20% of familial cavernous malformations caused by mutations in CCM2
Created: 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 603284
  • Capillary malformation-arteriovenous malformation 608354
OMIM
607929
Clinvar variants
Variants in CCM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2020, Gel status: 3

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

2 Sep 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CCM2 were set to 20301470; 14624391

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CCM2.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CCM2.

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCM2 were set to 20301470, 14624391

19 Dec 2016, Gel status: 4

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

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CCM2 were set to 20301470, 14624391

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CCM2 was added to Cerebrovascular disorderspanel. Source: UKGTN

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCM2 was added to Cerebrovascular disorderspanel. Sources: Emory Genetics Laboratory

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CCM2 was created by ellenmcdonagh