Ehlers Danlos syndromes

Gene: TGFB2

Green List (high evidence)

TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 14 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: TGFB2; 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)

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.

Details

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TGFB2. 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 TGFB2 were set to 22772368; 22772371

4 May 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TGFB2 were set to 22772368;22772371

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGFB2 were set to Loeys-Dietz syndrome 4, 614816

4 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGFB2 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFB2 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list