Ehlers Danlos syndromes

Gene: TGFBR1

Green List (high evidence)

TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 18 panels

6 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: TGFBR1; 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)

I don't know

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.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Loeys-Dietz is an important differential not to miss in this condition.
Created: 11 May 2016, 12:53 p.m.

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TGFBR1. 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.

26 Apr 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

TGFBR1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services

26 Apr 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).

26 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGFBR1 were set to Loeys-Dietz syndrome 1, 609192

26 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TGFBR1 were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders;Loeys-Dietz syndrome 1, 609192

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBR1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGFBR1 was created by ellenmcdonagh