Incidentalome_PREGEN_DRAFT
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
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: may present in childhoodCreated: 20 Jan 2021, 5:18 a.m. | Last Modified: 20 Jan 2021, 5:18 a.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NSW Health Pathology
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- None
- Panels with this gene
-
- Combined Immunodeficiency
- 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
- Additional findings_Adult
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
20 Jan 2021, Gel status: 1
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: tgfbr1 has been classified as Red List (Low Evidence).
9 Nov 2020, 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 Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: TGFBR1 was set to Unknown