This Panel is marked as Internal
Other peroxisomal disorders
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
Ellen McDonagh (Genomics England Curator)
The acatalasemia phenotype is incorrectly associated with this gene on the Radboud metabolic disorders panel - the correct phenotypes associated in OMIM are Homocystinuria, B6-responsive and nonresponsive types and Thrombosis, hyperhomocysteinemicCreated: 21 Jul 2016, 10:01 a.m.
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Acatalasemia, 614097
- OMIM
- 613381
- Clinvar variants
- Variants in CBS
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Thoracic aortic aneurysm or dissection (GMS)
- Peroxisomal disorders
- Intellectual disability
- Likely inborn error of metabolism
- Thoracic aortic aneurysm or dissection
- Undiagnosed metabolic disorders
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Structural eye disease
History Filter Activity
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CBS was added to Other peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen