Ehlers Danlos syndrome with a likely monogenic cause
Gene: FLCN
We would not include a cancer predisposition gene despite it's predisposition to pneumothorax. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.Created: 7 Jul 2017, 6:28 p.m.
Comment on list classification: Changed from Green to Red due to clinical review. Pneumothorax is seen in relation to vEDS but phenotype is otherwise quite removed. Expert opinion red based upon phenotype.Created: 25 Jul 2017, 12:44 p.m.
Comment on publications: added publications to support evidence that variants of FLCN causes primary spontaneous pneumothorax which can be a complication of heritable disorders of connective tissueCreated: 12 May 2017, 9:23 a.m.
Comment on list classification: Feedback form clinical team R.Scott and A. Tucci: The gene should be on the Familial Thoracic Aortic Aneurysm Disease panel, which would mean that is would be on our wider connective tissue panel if we decide to merge later onCreated: 12 May 2017, 9:22 a.m.
Comment on list classification: changed from Grey to Green - enough evidence in the literature to support variants of FLCN cause PneumothoraxCreated: 12 May 2017, 9:21 a.m.
Comment on phenotypes: confirmation from clinical team, Arianna Tucci - keep on EDS panel as pneumothorax can be a complication of EDS/ MarfanCreated: 12 May 2017, 9:19 a.m.
Comment on phenotypes: from OMIM: Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490).
Created: 12 May 2017, 9:14 a.m.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FLCN were set to 15657874; 17496196; 20413710; 21550484; 19483054; 15852235; 15805188
Phenotypes for FLCN were set to Pneumothorax, primary spontaneous, 173600; Connective Tissue Disorders
Publications for FLCN were set to 15657874; 17496196; 20413710; 21550484; 19483054; 15852235; 15805188; 12204536; 26928018;
Publications for FLCN were set to 15657874 17496196 20413710 21550484 19483054 15852235 15805188 12204536 26928018
This gene has been removed from the panel.
Phenotypes for FLCN were set to Pneumothorax, primary spontaneous, 173600; Connective Tissue Disorders
Mode of inheritance for FLCN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FLCN was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory
FLCN was created by ellenmcdonagh