Ehlers Danlos syndromesGene: TGFB2
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: TGFB2; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.
Comment on list classification: changed from Red to Green due to evidence in the literature
Created: 4 May 2017, 2:40 p.m.
Comment on publications: added publications to support evidence, causative variants found in 3 large unrelated families
Created: 4 May 2017, 2:39 p.m.
Comment on phenotypes: Removed 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' as this comes from the name of the sequencing panel from EGL Genetics. Gene on panel due to associated clinical phenotype of Joint hyperflexibility, need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.
Created: 4 May 2017, 2:36 p.m.
Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816
Source NHS GMS was added to TGFB2. 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.
Publications for TGFB2 were set to 22772368; 22772371
Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for TGFB2 were set to 22772368;22772371
Phenotypes for TGFB2 were set to Loeys-Dietz syndrome 4, 614816
Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB2 was created by ellenmcdonagh
TGFB2 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list