Ehlers Danlos syndrome with a likely monogenic cause

Gene: FLCN

Red List (low evidence)

Red List (low evidence)

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 tissue

Created: 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 on

Created: 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 Pneumothorax

Created: 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/ Marfan

Created: 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.