Gastrointestinal epithelial barrier disorders
Gene: TGFBR2
TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 16 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Given reviews by two members of internal clinical team noting that there is not a clear Gastrointestinal phenotype, this gene will remain at low evidence.Created: 25 Jul 2018, 4:16 p.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Not a common phenotypic feature. Needs further evidence before on this panel.Created: 13 Oct 2016, 8:57 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to expert review and internal review.Created: 14 Oct 2016, 10:22 a.m.
Comment on list classification: High level of evidence for Loeys-Dietz syndrome.Created: 13 Oct 2016, 2:49 p.m.
Neil shah (GOSH)
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 190182
- Clinvar variants
- Variants in TGFBR2
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Clefting
- COVID-19 research
- Cerebral vascular malformations
- Pneumothorax - familial
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
History Filter Activity
25 Jul 2018, Gel status: 1
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 1
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: tgfbr2 has been classified as Red List (Low Evidence).
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)TGFBR2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)TGFBR2 was created by Olivia Niblock