Familial pulmonary fibrosis
Gene: FLCN
FLCN (folliculin)
EnsemblGeneIds (GRCh38): ENSG00000154803
EnsemblGeneIds (GRCh37): ENSG00000154803
OMIM: 607273, Gene2Phenotype
FLCN is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000154803
EnsemblGeneIds (GRCh37): ENSG00000154803
OMIM: 607273, Gene2Phenotype
FLCN is in 12 panels
2 reviews
Philip Molyneaux (Imperial College)
Birt-Hogg-Dube syndrome and Cystic lung disease, not Fibrosis
Created: 26 Apr 2017, 12:09 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Birt-Hogg-Dube (cystic lung disease and pneumothoraces) -incorrect phenotypeCreated: 8 Feb 2017, 6:59 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 607273
- Clinvar variants
- Variants in FLCN
- Penetrance
- Complete
- Panels with this gene
-
- Pneumothorax - familial
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Thoracic aortic aneurysm or dissection (GMS)
- Multiple monogenic benign skin tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Familial pulmonary fibrosis
- Thoracic aortic aneurysm or dissection
- Inherited renal cancer
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
8 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FLCN was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FLCN was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory