Cerebral vascular malformations
Gene: CBS
CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 13 panels
1 review
Arina Puzriakova (Genomics England Curator)
Individuals with CBS variants are at higher risk of thromboembolic events such as peripheral vein thrombosis, pulmonary embolism, stroke, peripheral artery occlusion, and myocardial infarction. Cerebral sinovenous thrombosis can occur but could not find evidence of vascular malformations. Therefore this gene does not appear relevant to this panel and rating as Red.Created: 17 Jun 2025, 2:52 p.m. | Last Modified: 17 Jun 2025, 2:53 p.m.
Panel Version: 4.5
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 613381
- Clinvar variants
- Variants in CBS
- Penetrance
- None
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Structural eye disease
- Cerebral vascular malformations
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Peroxisomal disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Thoracic aortic aneurysm or dissection
History Filter Activity
17 Jun 2025, Gel status: 1
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cbs has been classified as Red List (Low Evidence).
16 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance
Ginat Narkis (Soroka Medical Center)gene: CBS was added gene: CBS was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal