Pneumothorax - familial
Gene: SMAD3
Is on Royal Brompton CGGL panel asknown cause of LDS 3. Pneumothorax can be a feature of LDS, potentially repsenting feature, therefore appropriate for this panel as well as FTAAD panel, but not sure if this specific gene associated with LDS-related pneumothoraxCreated: 7 Nov 2019, 11:55 a.m. | Last Modified: 7 Nov 2019, 11:55 a.m.
Panel Version: 2.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM: 613795 Loeys-Dietz syndrome type 3
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: added phenotype suggested by expert reviewerCreated: 7 Nov 2019, 3:33 p.m. | Last Modified: 7 Nov 2019, 3:33 p.m.
Panel Version: 2.1
October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/Created: 5 Nov 2019, 2:56 p.m. | Last Modified: 5 Nov 2019, 2:56 p.m.
Panel Version: 1.18
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Loeys-Dietz syndrome - is pneumothorax part of the phenotype for LDS caused by variants in these genes? Specialist group to contact Stefan Marciniak/Bart Loeys to confirm thisCreated: 21 Jan 2019, 10:36 a.m.
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: SMAD3; 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: Link with SMAD3 and Loeys-Dietz syndrome is well documented, however unable to find strong links between SMAD3 and pneumothorax phenotype.Created: 26 Jan 2017, 2:42 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: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795
Source NHS GMS was added to SMAD3.
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
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
SMAD3 was created by [email protected]
SMAD3 was added to Familial Pneumothoraxpanel. Sources: Expert list