Ehlers Danlos syndrome with a likely monogenic cause
Gene: CBS

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 13 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

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)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

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.

Created: 11 May 2017, 12:13 p.m.

Panel version: 0.388

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