Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: TGFBR1EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 16 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Some patients have craniofacial involvement including CSS ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1 - 609192
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TGFBR1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Andrew Wilkie (University of Oxford)
Craniosynostosis occurs in approx. 10% cases. Mutations are localised missense changes associated with increased TGFbeta signalling. Diagnosis should only be made in presence of recognised mutation type and other features of Loeys-Dietz syndrome.Created: 15 Sep 2015, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Loeys-Dietz syndrome 1 609192
- 609192
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Fetal anomalies
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Thoracic aortic aneurysm or dissection
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Arthrogryposis
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Loeys-Dietz syndrome 1 609192 for gene: TGFBR1
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)
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for TGFBR1 were set to 609192
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for TGFBR1 were set to 15731757
Set mode of pathogenicity
Richard Scott (Genomics England Curator)Mode of pathogenicity for TGFBR1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for TGFBR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)TGFBR1 was added to Craniosynostosis syndromespanel. Sources: Expert list