Ehlers Danlos syndromes

Gene: CBS

Green List (high evidence)

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 14 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
Created: 18 Mar 2021, 1:36 p.m. | Last Modified: 18 Mar 2021, 1:36 p.m.
Panel Version: 2.16

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CBS; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Update: Added to panel as can present with clinical features overlapping with EDS
Created: 11 May 2017, 12:13 p.m.
Comment on phenotypes: Removed Marfan syndrome phenotype -This gene was added via the 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' sequencing panel from EGL Genetics. The gene on panel due to associated clinical phenotypes of Joint laxity and Hyperextensibility of the skin, need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.
Created: 7 May 2017, 1:37 p.m.
added tag 'Treatable' 02 May 2017
Created: 2 May 2017, 12:54 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Tags
treatable
OMIM
613381
Clinvar variants
Variants in CBS
Penetrance
Complete
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200

13 Mar 2019, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CBS.

25 Jul 2017, Gel status: 3

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

11 May 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic

11 May 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

CBS was added to Ehlers-Danlos syndromespanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services

7 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for CBS was changed to BIALLELIC, autosomal or pseudoautosomal

7 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200; HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE; CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CBS was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CBS was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list