Infantile enterocolitis & monogenic inflammatory bowel disease
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
3 reviews
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, which may include inflammatory disorders such as inflammatory bowel disease.Created: 13 Oct 2016, 2:47 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
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- 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
14 Oct 2016, Gel status: 4
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.
14 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 Oct 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Oct 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
10 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TGFBR1 was created by ellenmcdonagh
10 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TGFBR1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list