Ehlers Danlos syndrome with a likely monogenic cause
Gene: CBSComment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemicCreated: 18 Mar 2021, 1:36 p.m. | Last Modified: 18 Mar 2021, 1:36 p.m.
Panel Version: 2.16
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Update: Added to panel as can present with clinical features overlapping with EDSCreated: 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 2017Created: 2 May 2017, 12:54 p.m.
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
Source NHS GMS was added to CBS.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
CBS was added to Ehlers-Danlos syndromespanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for CBS was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200; HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE; CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CBS was created by ellenmcdonagh
CBS was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list