Pneumothorax
Gene: FLCNEnsemblGeneIds (GRCh38): ENSG00000154803
EnsemblGeneIds (GRCh37): ENSG00000154803
OMIM: 607273, Gene2Phenotype
FLCN is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Pneumothoraces is a feature of this condition. Reported in ~25% of affected individuals.Created: 28 Nov 2024, 3:11 a.m. | Last Modified: 28 Nov 2024, 3:11 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Obsolete Birt-Hogg-Dube syndrome MONDO:0007607
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- NHS GMS
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- Literature
- Phenotypes
-
- Pneumothorax, primary spontaneous, OMIM:173600
- Birt-Hogg-Dube Syndrome, OMIM:135150
- OMIM
- 607273
- Clinvar variants
- Variants in FLCN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FLCN was added gene: FLCN was added to Pneumothorax. Sources: Literature,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,NHS GMS,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to 19483054; 15852235; 26928018; 15657874; 21550484; 15805188; 12204536 Phenotypes for gene: FLCN were set to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150