Clefting
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
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed from Green to Red. LDS is associated with clefting.Created: 29 Aug 2018, 1:12 p.m.
Comment on publications: added mouse model paper PMID: 12975342Created: 14 Aug 2018, 10:10 a.m.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Historically, Loeys-Dietz syndrome has been divided into subtypes, of which LDS type I is associated with craniofacial features including cleft palate and LDS type II has minimal or absent craniofacial features. Although LDS type I has been said to be more commonly associated with variants in TGFBR1, PMID:16928994 found TGFBR2 variants in 21/30 patients with LDS type I.Created: 7 Aug 2018, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Loeys-Dietz syndrome
- Loeys-Dietz syndrome 2, 610168
- OMIM
- 190182
- Clinvar variants
- Variants in TGFBR2
- Penetrance
- None
- Publications
- 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
29 Aug 2018, Gel status: 3
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: tgfbr2 has been classified as Green List (High Evidence).
14 Aug 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TGFBR2 were set to 15731757; 16928994; 12975342
14 Aug 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys-Dietz syndrome 2, 610168
7 Aug 2018, Gel status: 1
Added New Source
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)TGFBR2 was added to Clefting panel. Sources: Expert Review
7 Aug 2018, Gel status: 1
Created
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)TGFBR2 was created by Anna de Burca