Pneumothorax - familial

Gene: TGFBR1

Green List (high evidence)

On CGGL Royal Brompton panel. Known cause of LDS 1. Pneumothorax can be a feature of LDS, potentially repsenting feature, therefore appropriate for this panel as well as FTAAD panel

Created: 7 Nov 2019, 9:16 a.m. | Last Modified: 7 Nov 2019, 9:16 a.m.

Panel Version: 2.0

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

Phenotypes
OMIM: 609192 Loeys-Dietz syndrome 1

Publications

• 16799921

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

Green List (high evidence)

Comment on publications: added publication suggested by expert reviewer

Created: 7 Nov 2019, 3:39 p.m. | Last Modified: 7 Nov 2019, 3:39 p.m.

Panel Version: 2.6

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: 2.5

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: TGFBR1; 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: Clinical review

Created: 9 Feb 2017, 10:43 a.m.

Comment on list classification: Clear association between gene and Loeys-Dietz Syndrome, however only one case of TGFBR1 and pneumothorax phenotype found in the literature (PMID: 16799921).

Created: 27 Jan 2017, 2:58 p.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