Transplant Co-Morbidity Superpanel
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Loeys-Dietz syndrome 1, MIM# 609192
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TGFBR1 was added gene: TGFBR1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1, MIM# 609192