Pneumothorax
Gene: TGFBR2

TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 20 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

At least two unrelated individuals reported with variants in TGFBR2 presenting with pneumothorax as a phenotype along with a supporting functional assay.
Created: 28 Nov 2024, 9:40 p.m. | Last Modified: 28 Nov 2024, 9:40 p.m.

Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 2 MONDO:0012427

Publications

Created: 28 Nov 2024, 9:40 p.m.
Last Modified: 28 Nov 2024, 9:40 p.m.
Panel version: 0.11

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Pulmonary emphysema, MONDO:0004849
Loeys-Dietz syndrome type 2, OMIM:610168

OMIM

190182

Clinvar variants

Variants in TGFBR2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Oct 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TGFBR2 was added gene: TGFBR2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR2 were set to 25006744; 26493799; 15591413; 23161884 Phenotypes for gene: TGFBR2 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168

Pneumothorax Gene: TGFBR2