Ehlers Danlos syndromes

Gene: FLCN

Red List (low evidence)

FLCN (folliculin)
EnsemblGeneIds (GRCh38): ENSG00000154803
EnsemblGeneIds (GRCh37): ENSG00000154803
OMIM: 607273, Gene2Phenotype
FLCN is in 12 panels

3 reviews

Angela Brady (Nhs)

Red List (low evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

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.

Louise Daugherty (Genomics England Curator)

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.

History Filter Activity

25 Jul 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FLCN were set to 15657874; 17496196; 20413710; 21550484; 19483054; 15852235; 15805188

12 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLCN were set to Pneumothorax, primary spontaneous, 173600; Connective Tissue Disorders

12 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FLCN were set to 15657874; 17496196; 20413710; 21550484; 19483054; 15852235; 15805188; 12204536; 26928018;

12 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FLCN were set to 15657874 17496196 20413710 21550484 19483054 15852235 15805188 12204536 26928018

11 May 2017, Gel status: 0

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been removed from the panel.

7 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLCN were set to Pneumothorax, primary spontaneous, 173600; Connective Tissue Disorders

7 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FLCN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLCN was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLCN was created by ellenmcdonagh