Ehlers Danlos syndrome with a likely monogenic cause
Gene: TGFBR1EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 16 panels
6 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
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 syndromeCreated: 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Loeys-Dietz syndrome 1, OMIM:609192
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- COVID-19 research
- Clefting
- Cerebral vascular malformations
- Pneumothorax - familial
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
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
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)
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.
Upload gene information
Louise Daugherty (Genomics England Curator)TGFBR1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TGFBR1 were set to Loeys-Dietz syndrome 1, 609192
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
Added New Source
Ellen McDonagh (Genomics England Curator)TGFBR1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)TGFBR1 was created by ellenmcdonagh