Miscellaneous Metabolic Disorders

Gene: CBS

Green List (high evidence)

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 15 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Homocystinuria due to CBS deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism.
Sources: NHS GMS
Created: 2 Feb 2021, 11:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association
Created: 24 Mar 2020, 1:40 a.m. | Last Modified: 24 Mar 2020, 1:40 a.m.
Panel Version: 0.1827

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types MIM#236200
  • disorder of intracellular cobalamin metabolism
  • metabolic disorder of sulfur metabolism
Tags
treatable
OMIM
613381
Clinvar variants
Variants in CBS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism; metabolic disorder of sulfur metabolism

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CBS.

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cbs has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cbs has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 1

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 Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 7967489 Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism Review for gene: CBS was set to GREEN gene: CBS was marked as current diagnostic