Ehlers Danlos syndromes

Gene: TGFB3

Green List (high evidence)

TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

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: TGFB3; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Recognised on G2P
Created: 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 literature
Created: 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

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TGFB3. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

4 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TGFB3 were set to 24798638; 23824657; 25835445

4 May 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582

4 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TGFB3 were set to 24798638; 23824657;25835445;

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582;Arrhythmogenic right ventricular dysplasia 1; 107970

4 May 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582

26 Apr 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

TGFB3 was added to Ehlers-Danlos syndromespanel. Sources: Other

26 Apr 2017, Gel status: 0

clearsources

Louise Daugherty (Genomics England Curator)

TGFB3All sources for gene: TGFB3 were removed

26 Apr 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

TGFB3 was added to Ehlers-Danlos syndromespanel. Sources: Expert Review

26 Apr 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TGFB3 was created by LouiseD