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Pneumothorax

Gene: TGFB2

Green List (high evidence)
TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 11 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Spontaneous pneumothorax is a common feature that overlaps between LDS and MFS.
Not a common phenotype compared to other LDS genes in individuals affected with TGFB2-related LDS.
Created: 28 Nov 2024, 10:47 p.m. | Last Modified: 28 Nov 2024, 10:47 p.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 4 MONDO:0013897

Publications

Created: 28 Nov 2024, 10:47 p.m.
Last Modified: 28 Nov 2024, 10:47 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
  • Loeys-Dietz syndrome 4, OMIM:614816
  • Pulmonary emphysema, MONDO:0004849
OMIM
190220
Clinvar variants
Variants in TGFB2
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: TGFB2 was added gene: TGFB2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB2 were set to 25006744; 26493799; 15591413; 23161884 Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, OMIM:614816; Pulmonary emphysema, MONDO:0004849