Pneumothorax - familial
Gene: TGFBR2
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 panelCreated: 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
Comment on phenotypes: added phenotype suggested by expert reviewerCreated: 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 givenCreated: 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.
Some evidence of association with pneumothorax as part of Loeys Dietz syndromeCreated: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome; Pulmonary emphysema
Publications
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
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
Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168
Source NHS GMS was added to TGFBR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This proposed gene was validated and added to this panel
TGFBR2 was added to Familial Pneumothoraxpanel. Sources: Expert list
TGFBR2 was created by [email protected]