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  2. Vascular Malformations_Germline
  3. CCM2
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Vascular Malformations_Germline

Gene: CCM2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Primarily a CCM gene, limited reports of palmar telangiectasia.
Created: 2 Jul 2020, 3:07 a.m. | Last Modified: 2 Jul 2020, 3:07 a.m.
Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations-2, MIM# 603284

Publications

Created: 2 Jul 2020, 3:07 a.m.
Last Modified: 2 Jul 2020, 3:07 a.m.
Panel version: 0.99

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral cavernous malformations-2, MIM# 603284
Tags
SV/CNV
OMIM
607929
Clinvar variants
Variants in CCM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccm2 has been classified as Amber List (Moderate Evidence).

2 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations to Cerebral cavernous malformations-2, MIM# 603284

2 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCM2 were set to

2 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccm2 has been classified as Amber List (Moderate Evidence).

2 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: CCM2.

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CCM2 was added gene: CCM2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations