Stroke
Gene: CBSEnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Large artery atherosclerosis/non-atherosclerosis, small-vessel disease, venous thrombosis, and arterial thrombosis stroke subtypes have been reported in the condition.
Sources: LiteratureCreated: 8 May 2020, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types MIM#236200; Thrombosis, hyperhomocysteinemic MIM#236200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Homocystinuria, B6-responsive and nonresponsive types MIM#236200
- Thrombosis, hyperhomocysteinemic MIM#236200
- Tags
- OMIM
- 613381
- Clinvar variants
- Variants in CBS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Pneumothorax
- Regression
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Aortopathy_Connective Tissue Disorders
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CBS.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cbs has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cbs has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CBS was added gene: CBS was added to Stroke. Sources: Literature Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 30356112; 20142522; 12552044 Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; Thrombosis, hyperhomocysteinemic MIM#236200 Review for gene: CBS was set to GREEN