Ehlers Danlos syndrome with a likely monogenic cause
Gene: TGFB3
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: TGFB3; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Recognised on G2PCreated: 4 May 2017, 3:01 p.m.
Comment on phenotypes: 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: 4 May 2017, 3:01 p.m.
Comment on list classification: changed red to green due to evidence in the literatureCreated: 4 May 2017, 2:59 p.m.
Comment on phenotypes: 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: 4 May 2017, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582
Source NHS GMS was added to TGFB3. 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 TGFB3 were set to 24798638; 23824657; 25835445
Mode of inheritance for TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582
Publications for TGFB3 were set to 24798638; 23824657;25835445;
This gene has been classified as Green List (High Evidence).
Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582;Arrhythmogenic right ventricular dysplasia 1; 107970
Mode of inheritance for TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582
TGFB3 was added to Ehlers-Danlos syndromespanel. Sources: Other
TGFB3All sources for gene: TGFB3 were removed
TGFB3 was added to Ehlers-Danlos syndromespanel. Sources: Expert Review
TGFB3 was created by LouiseD