Pneumothorax - familial

Gene: TGFBR2

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

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.

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.

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

• 26493799
• 15591413
• 25006744
• 23161884