Pneumothorax - familial

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)

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

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

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.

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.

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

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/02/17 - Panel revised according to expert review, literature searches and clinical review.

9 Feb 2017, Gel status: 4

Upload gene information

Olivia Niblock (Genomics England Curator)

FLCN was added to Familial Pneumothoraxpanel. Sources: Eligibility statement prior genetic testing

13 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

13 Jan 2017, Gel status: 4

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for FLCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

Added New Source

Olivia Niblock (Genomics England Curator)

FLCN was added to Familial Pneumothoraxpanel. Source: UKGTN

19 Dec 2016, Gel status: 4

Added New Source

Olivia Niblock (Genomics England Curator)

FLCN was added to Familial Pneumothoraxpanel. Source: Emory Genetics Laboratory

19 Dec 2016, Gel status: 4

Added New Source

Olivia Niblock (Genomics England Curator)

FLCN was added to Familial Pneumothoraxpanel. Source: Illumina TruGenome Clinical Sequencing Services

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

FLCN was added to Familial Pneumothoraxpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Sep 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FLCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FLCN was added to Familial Pneumothoraxpanel. Sources: Expert list,Literature

13 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLCN was created by ellenmcdonagh