Incidentalome_PREGEN_DRAFT
Gene: TGFBR2
TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 20 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: may present in childhoodCreated: 20 Jan 2021, 5:17 a.m. | Last Modified: 20 Jan 2021, 5:17 a.m.
Panel Version: 0.25
may present in childhoodCreated: 20 Jan 2021, 5:17 a.m. | Last Modified: 20 Jan 2021, 5:17 a.m.
Panel Version: 0.24
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NSW Health Pathology
- OMIM
- 190182
- Clinvar variants
- Variants in TGFBR2
- 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
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- 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: tgfbr2 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: TGFBR2 was added gene: TGFBR2 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: TGFBR2 was set to Unknown