Ehlers Danlos syndromesGene: TGFBR1
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: TGFBR1; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.
Refer to clinical team for further discussion on wether we should include this gene on the EDS panel. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.
Created: 28 Apr 2017, 11:51 a.m.
Refer to clinical team for further discussion on wether we should include TGFBR1 on the EDS panel. We are currently including FBN1 Marfan syndrome, which is also a disorder associated to the connective tissue. There is clinical overlap between EDS and other connective Tissue Disorders like Loeys-Dietz syndrome.
Created: 26 Apr 2017, 1:34 p.m.
Comment on list classification: changed status from Amber to green due to enough evidence in the literature and there is clinical overlap between EDS and other Heritable Connective Tissue Disorders like Loeys-Dietz syndrome
Created: 26 Apr 2017, 10:40 a.m.
Comment on list classification: Loeys-Dietz is an important differential not to miss in this condition.
Created: 11 May 2016, 12:53 p.m.
Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192
Source NHS GMS was added to TGFBR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
TGFBR1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
This gene has been classified as Green List (High Evidence).
Phenotypes for TGFBR1 were set to Loeys-Dietz syndrome 1, 609192
Phenotypes for TGFBR1 were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders;Loeys-Dietz syndrome 1, 609192
TGFBR1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green
TGFBR1 was created by ellenmcdonagh