Bilateral congenital or childhood onset cataracts
Gene: CBSEnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 13 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Cataracts not part of this phenotype.Created: 7 Jun 2016, 12:36 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
Many reports of mutations associated with ocular disorders, espsecially ectopia lentis, in CBS patientsCreated: 25 May 2016, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, AR
Publications
- Many on HGMD
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Cystathione Beta-synthase deficiency.Created: 29 Apr 2016, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria B6-responsive and nonresponsive types; confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Homocystinuria, AR
- Homocystinuria B6-responsive and nonresponsive types
- confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
- OMIM
- 613381
- Clinvar variants
- Variants in CBS
- Penetrance
- Complete
- Publications
-
- Many on HGMD
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Peroxisomal disorders
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Thoracic aortic aneurysm or dissection
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CBS were set to Many on HGMD
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CBS were set to Homocystinuria, AR; Homocystinuria B6-responsive and nonresponsive types; confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CBS was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()CBS was added to Cataractspanel. Sources: UKGTN