This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: TGFBR1
TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 16 panels
0 reviews
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
-
- Intellectual disability
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Arthrogryposis
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: TGFBR1 was added gene: TGFBR1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFBR1 was set to Unknown