Skeletal dysplasia
Gene: TGFBR2EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 16 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Overgrowth (tall stature) syndromes with skeletal involvement gp of SD. green - multiple mutations.; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 2 610168
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TGFBR2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 8:37 a.m.
Comment on phenotypes: Variants also reported in Colorectal cancer, hereditary nonpolyposis, type 6 614331 and Esophageal cancer 133239Created: 1 Aug 2016, 8:37 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 2 610168
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Loeys-Dietz syndrome 2 610168
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Loeys-Dietz syndrome 2 610168 for gene: TGFBR2
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to TGFBR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TGFBR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Sarah Leigh (Genomics England Curator)TGFBR2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)TGFBR2 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)TGFBR2 was created by sleigh