Vasculitis
Gene: TGFBR1
TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels
1 review
Sue White (Victorian Clinical Genetics Services)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- None
- 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
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TGFBR1 was added gene: TGFBR1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFBR1 was set to Unknown