Thoracic aortic aneurysm or dissection

Gene: FLCN

Green List (high evidence)

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

5 reviews

Ivone Leong (Genomics England Curator)

After consulting with the Genomics England Clinical Team, it was decided that this gene should remain Green on this panel.
Created: 13 Jan 2020, 11:03 a.m. | Last Modified: 13 Jan 2020, 11:03 a.m.
Panel Version: 1.110

Rebecca Whittington (South West GLH)

Red List (low evidence)

135150 Birt-Hogg-Dube syndrome; 173600 primary spontaneous pneumothorax - neither of these have mention of cardiac phenotype but do mention pneumothorax being typical of Marfan syndrome
Created: 25 Mar 2019, 4:30 p.m.
Liu et al 2017 Orphanet J Rare dis 12:104 PMID:28558743 characterise several FLCN variants in a chinese Birt-Hogg-Dube cohort and comment on comparision with mutations found in Western cohorts, but do not mention any cardiac involvement
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ataf Sabir (Birmingham Women's Hospital)

I don't know

76 year female developed type A aortic dissection. Post op investigation revealed BHD syndrome. Could the TAAD be incidental (and related to age) rather than association with FLCN?
Where is the evidence for FLCN association with TAAD? Why is it in the green list?
Created: 7 Mar 2019, 1:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on publications: added publications to support evidence that variants of FLCN causes primary spontaneous pneumothorax and Birt-Hogg-Dube Syndrome
Created: 11 May 2017, 2:34 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 11 May 2017, 2:28 p.m.
clinical team R.Scott and A. Tucci advised this gene was taken off the Ehlers-Danlos syndrome panel, and noted FLCN should be on the Familial Thoracic Aortic Aneurysm Disease panel, which would mean it would be on our wider connective tissue panel if we decide to merge EDS and this panel plus others later on
Created: 11 May 2017, 2:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pneumothorax, primary spontaneous, 173600

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Pneumothorax, primary spontaneous, 173600
  • Birt-Hogg-Dube syndrome,135150
OMIM
607273
Clinvar variants
Variants in FLCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to FLCN. Mode of inheritance for gene FLCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FLCN.

11 May 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

FLCN was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN

11 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLCN were set to Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome,135150

11 May 2017, Gel status: 1

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: 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

11 May 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

FLCN was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Emory Genetics Laboratory

11 May 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FLCN was created by LouiseD