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Pneumothorax

Gene: TGFB3

Green List (high evidence)
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Created: 12 Dec 2024, 9:53 p.m. | Last Modified: 12 Dec 2024, 9:53 p.m.
Panel Version: 0.19
Created: 12 Dec 2024, 9:53 p.m.
Last Modified: 12 Dec 2024, 9:53 p.m.
Panel version: 0.19

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

TGFB3 is associated with LDS type 5. Multiple cases reported with LDS and a variant in TGFB3 however none of the reported cases presented with any pneumothoraces.
Presentation of pneumothorax isn't a common association with TGFB3.

PMID: 31898322 - reported in one female who presented with pneumothorax at the age of 14.
Created: 28 Nov 2024, 6:27 a.m. | Last Modified: 28 Nov 2024, 6:27 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome MONDO:0018954

Publications

Created: 28 Nov 2024, 6:27 a.m.
Last Modified: 28 Nov 2024, 6:27 a.m.
Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Pulmonary emphysema, MONDO:0004849
  • Loeys-Dietz syndrome 5, OMIM:615582
OMIM
190230
Clinvar variants
Variants in TGFB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgfb3 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884

27 Oct 2022, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TGFB3 was added gene: TGFB3 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884 Phenotypes for gene: TGFB3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582