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Pneumothorax - familial
Gene: FLCN

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

5 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube Syndrome
Created: 17 Mar 2021, 2:17 p.m. | Last Modified: 17 Mar 2021, 2:17 p.m.

Panel Version: 2.24

Created: 17 Mar 2021, 2:17 p.m.
Last Modified: 17 Mar 2021, 2:17 p.m.
Panel version: 2.24

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On Royal Brompton CGGL panel. Multiple cases reported. FLCN mutations are commonenst genetic cause of pneumothorax, which is cardinal feature of Birt-Hogg-Dube syndrome.
Created: 7 Nov 2019, 9:02 a.m. | Last Modified: 7 Nov 2019, 9:02 a.m.

Panel Version: 2.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM 173600 Pneumothorax, primary spontaneous; 135150 Birt-Hogg-Dube syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Nov 2019, 9:02 a.m.
Last Modified: 7 Nov 2019, 9:02 a.m.
Panel version: 2.0

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: added publication suggested by expert reviewer
Created: 7 Nov 2019, 3:44 p.m. | Last Modified: 7 Nov 2019, 3:44 p.m.

Panel Version: 2.13

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: FLCN; Suggested initial gene rating: Green; Evidence for inclusion: Pneumothorax, primary spontaneous; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.

Created: 6 Dec 2018, 2:37 p.m.

Panel version: 1.9

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 cases reported for different variants, in patients from different ethnicities.
Created: 8 Sep 2016, 3:39 p.m.

Gene added by Stefan Marciniak (University of Cambridge).
Created: 13 May 2016, 9:17 a.m.

Created: 13 May 2016, 9:17 a.m.

Panel version: 0.10

Stefan Marciniak (University of Cambridge)

Green List (high evidence)

In our Cambridge Pneumothorax MDT, FLCN mutation is the commonest causative genetic abnormality in familial pneumothorax accounting for 15% of cases
Created: 13 May 2016, 9:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary Spontaneous Pneumothorax #173600; Birt-Hogg-Dube Syndrom #135150

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Eligibility statement prior genetic testing
Expert Review Green
UKGTN
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert list
Literature

Phenotypes

Pneumothorax, primary spontaneous, OMIM:173600
Birt-Hogg-Dube Syndrome, OMIM:135150

Tags

deletions

OMIM

607273

Clinvar variants

Variants in FLCN

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax; OMIM 173600; Birt-Hogg-Dube Syndrome; OMIM 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome

7 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FLCN were set to 21550484; 19483054; 15852235; 15805188; 15657874; 12204536; 26928018

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FLCN. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Feb 2017, Gel status: 4