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  2. Stroke
  3. CCM2
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Stroke

Gene: CCM2

Green List (high evidence)
CCM2 (CCM2 scaffolding protein)
EnsemblGeneIds (GRCh38): ENSG00000136280
EnsemblGeneIds (GRCh37): ENSG00000136280
OMIM: 607929, Gene2Phenotype
CCM2 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Cases reported with intracerebral bleeding and cavernoma stroke subtypes.
Sources: Literature
Created: 30 Apr 2020, 9:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations-2 MIM#603284

Publications

Created: 30 Apr 2020, 9:44 a.m.

Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral cavernous malformations-2 MIM#603284
OMIM
607929
Clinvar variants
Variants in CCM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccm2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccm2 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CCM2 was added gene: CCM2 was added to Stroke. Sources: Literature Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCM2 were set to 14624391; 18779516; 30356112 Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations-2 MIM#603284 Review for gene: CCM2 was set to GREEN