Pneumothorax - familial
Gene: TGFBR1
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 panelCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: added publication suggested by expert reviewerCreated: 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 reviewerCreated: 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 givenCreated: 6 Dec 2018, 2:37 p.m.
Comment on list classification: Clinical reviewCreated: 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.
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: TGFBR1 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192 to Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192
Publications for gene: TGFBR1 were set to 26493799; 15591413; 25006744; 23161884
Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192
Source NHS GMS was added to TGFBR1. 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 Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This proposed gene was validated and added to this panel
TGFBR1 was created by [email protected]
TGFBR1 was added to Familial Pneumothoraxpanel. Sources: Expert list