Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: TGFBR2EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 16 panels
4 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
Not part of the phenotype for Loeys-DietzCreated: 19 Dec 2022, 11:09 a.m. | Last Modified: 19 Dec 2022, 11:09 a.m.
Panel Version: 1.39
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
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Loeys-Dietz-Syndrome
- Loeys-Dietz syndrome 2
- OMIM
- 190182
- Clinvar variants
- Variants in TGFBR2
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- COVID-19 research
- Clefting
- Cerebral vascular malformations
- Pneumothorax - familial
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TGFBR2 were set to Loeys-Dietz-Syndrome;Loeys-Dietz syndrome 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TGFBR2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TGFBR2 was created by ellenmcdonagh