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  3. CBS
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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

Created: 2 Feb 2021, 11:06 p.m.

Panel version: 0.109

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

Created: 24 Mar 2020, 1:40 a.m.
Last Modified: 24 Mar 2020, 1:40 a.m.
Panel version: Imported from Mendeliome panel version 0.1827

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