Pneumothorax - familial

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 18 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 2. Pneumothorax can be a feature of LDS, potentially repsenting feature, therefore appropriate for this panel as well as FTAAD panel
Created: 7 Nov 2019, 9:18 a.m. | Last Modified: 7 Nov 2019, 9:18 a.m.
Panel Version: 2.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM: 610168 Loeys-Dietz syndrome type 2

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: added phenotype suggested by expert reviewer
Created: 7 Nov 2019, 3:38 p.m. | Last Modified: 7 Nov 2019, 3:38 p.m.
Panel Version: 2.4
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: TGFBR2; 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.

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: (PMID: 24577266, 26493799). With expert review and clinical discussion, this gene has been promoted to green.
Created: 9 Feb 2017, 9:47 a.m.

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

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFBR2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168 to Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TGFBR2. 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).

9 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Red List (Low 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

Added New Source

Stefan Marciniak (University of Cambridge)

TGFBR2 was added to Familial Pneumothoraxpanel. Sources: Expert list

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

TGFBR2 was created by [email protected]