Aortopathy_Connective Tissue Disorders
Gene: CBSEnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypic overlap with connective tissue disorders.Created: 25 Jun 2020, 8:24 a.m. | Last Modified: 25 Jun 2020, 8:24 a.m.
Panel Version: 0.40
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30071989; Classified as Limited by clingen working group for Heritable Thoracic Aortic Aneurysm and Dissection
Classified as Definitive by clingen for classic homocystinuria (march 2019).
Clingen evidence summary:
21 unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and 3 of these probands each had 2 affected siblings in whom CBS variants were identified (PMID: 1301198,10408774,7762555,12815602,16307898,25455305,26667307,29508359). More evidence is available in the literature, but the maximum score for genetic evidence (12 points) has been reached. This gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine). In summary, CBS is definitively associated with classic homocystinuria. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.Created: 25 Jun 2020, 2:12 a.m. | Last Modified: 25 Jun 2020, 2:12 a.m.
Panel Version: 0.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria (MIM# 236200)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Homocystinuria (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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cbs has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CBS were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CBS was added gene: CBS was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CBS was set to Unknown