Pneumothorax - familial
Gene: FLCNComment on phenotypes: Previous phenotypes:
Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube SyndromeCreated: 17 Mar 2021, 2:17 p.m. | Last Modified: 17 Mar 2021, 2:17 p.m.
Panel Version: 2.24
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
Comment on publications: added publication suggested by expert reviewerCreated: 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 givenCreated: 6 Dec 2018, 2:37 p.m.
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.
In our Cambridge Pneumothorax MDT, FLCN mutation is the commonest causative genetic abnormality in familial pneumothorax accounting for 15% of casesCreated: 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
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
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
Publications for gene: FLCN were set to 21550484; 19483054; 15852235; 15805188; 15657874; 12204536; 26928018
Source NHS GMS was added to FLCN. Rating Changed from Green List (high evidence) to Green List (high evidence)
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
FLCN was added to Familial Pneumothoraxpanel. Sources: Eligibility statement prior genetic testing
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FLCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
FLCN was added to Familial Pneumothoraxpanel. Source: UKGTN
FLCN was added to Familial Pneumothoraxpanel. Source: Emory Genetics Laboratory
FLCN was added to Familial Pneumothoraxpanel. Source: Illumina TruGenome Clinical Sequencing Services
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
Mode of inheritance for FLCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
FLCN was added to Familial Pneumothoraxpanel. Sources: Expert list,Literature
FLCN was created by ellenmcdonagh