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Pneumothorax - familial

Gene: TGFB3

Green List (high evidence)
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 11 panels

4 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Known cause of LDS 5. Pneumothorax can be a feature of LDS, potentially repsenting feature, therefore appropriate for this panel as well as FTAAD panel.
Created: 7 Nov 2019, 9:14 a.m. | Last Modified: 7 Nov 2019, 9:14 a.m.
Panel Version: 2.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM: 615582 Loeys-Dietz syndrome 5

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Nov 2019, 9:14 a.m.
Last Modified: 7 Nov 2019, 9:14 a.m.
Panel version: 2.0

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: added phenotype suggested by expert reviewer
Created: 7 Nov 2019, 3:40 p.m. | Last Modified: 7 Nov 2019, 3:40 p.m.
Panel Version: 2.9
Comment on publications: added publications suggested by expert reviewer
Created: 7 Nov 2019, 3:40 p.m. | Last Modified: 7 Nov 2019, 3:40 p.m.
Panel Version: 2.7
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: TGFB3; Suggested initial gene rating: Green; Evidence for inclusion: Loeys-Dietz syndrome; pneumothorax a common feature.; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.
Created: 6 Dec 2018, 2:37 p.m.

Panel version: 1.9

Olivia Niblock (Genomics England Curator)

Comment on list classification: Comment on list classification: After literature review, definite gene link between gene and LDS with some evidence of pneumothoraces: "Pneumothoraces and restrictive lung disease are reported pulmonary manifestations" (PMID: 24577266). With expert review and clinical discussion, this gene has been promoted to green.
Created: 9 Feb 2017, 9:46 a.m.
Created: 9 Feb 2017, 9:46 a.m.

Panel version: 0.30

Stefan Marciniak (University of Cambridge)

Green List (high evidence)

Some evidence of association with pneumothorax as part of Loeys Dietz syndrome
Created: 8 Sep 2016, 3:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Loeys-Dietz syndrome; Pulmonary emphysema

Publications

Created: 18 Oct 2016, 8:25 a.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pulmonary emphysema, MONDO:0004849
  • Loeys-Dietz syndrome 5, OMIM:615582
OMIM
190230
Clinvar variants
Variants in TGFB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFB3 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582

7 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

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

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TGFB3. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Feb 2017, Gel status: 4

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/02/17 - Panel revised according to expert review, literature searches and clinical review.

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

8 Sep 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

TGFB3 was created by [email protected]

8 Sep 2016, Gel status: 0

Added New Source

Stefan Marciniak (University of Cambridge)

TGFB3 was added to Familial Pneumothoraxpanel. Sources: Expert list