Craniosynostosis

Gene: TGFBR2

Green List (high evidence)

TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 15 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Some patients have craniofacial involvement including CSS ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 2 - 610168

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Eleanor Williams (Genomics England Curator)

I don't know

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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis occurs in approx. 10% cases. Mutations are localised missense changes associated with increased TGFbeta signalling. Diagnosis should only be made in presence of recognised mutation type and other features of Loeys-Dietz syndrome.
Created: 15 Sep 2015, 8:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • 610168
  • Loeys-Dietz syndrome 2 610168
OMIM
190182
Clinvar variants
Variants in TGFBR2
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Loeys-Dietz syndrome 2 610168 for gene: TGFBR2

5 Mar 2019, Gel status: 3

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)

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for TGFBR2 were set to 15731757

1 Feb 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for TGFBR2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for TGFBR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 0

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for TGFBR2 were set to 610168

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

TGFBR2 was added to Craniosynostosis syndromespanel. Sources: Expert list