Pneumothorax
Gene: TGFBR1EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.Created: 12 Dec 2024, 9:51 p.m. | Last Modified: 12 Dec 2024, 9:51 p.m.
Panel Version: 0.16
Sangavi Sivagnanasundram (Melbourne Health)
Pneumothorax has been a reported feature related to TGFBR1 however pneumothorax has only been reported in one individual.Created: 28 Nov 2024, 6:26 a.m. | Last Modified: 28 Nov 2024, 6:26 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome MONDO:0018954
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Pulmonary emphysema, MONDO:0004849
- Loeys-Dietz syndrome 1, OMIM:609192
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Combined Immunodeficiency
- Additional findings_Adult
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Craniosynostosis
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tgfbr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TGFBR1 was added gene: TGFBR1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884 Phenotypes for gene: TGFBR1 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192