Cystic kidney disease
Gene: FLCNThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 7 Mar 2022, 3:55 p.m. | Last Modified: 7 Mar 2022, 3:55 p.m.
Panel Version: 2.35
Comment on list classification: Promoting from grey to amber, with a recommendation for green rating at the next GMS review.Created: 29 Apr 2021, 10:44 p.m. | Last Modified: 29 Apr 2021, 10:44 p.m.
Panel Version: 2.26
Associated with Birt-Hogg-Dube syndrome #135150 (AD) in OMIM.
PMID:19785621 - Kluger et al 2010 - report the clinical features 22 patients from 10 unrelated families with BHDS and a confirmed FLCN (previously BHD) germline mutation (FLCN only sequenced). 5 different variants were identified (frameshift, nonsense, splice site, missense and translation initiation site). Renal cysts were found in in 10 patients (45%). Skin and lung phenotypic features were also observed in patients. 2 patients were considered carriers without any symptoms to date.
PMID: 31266032 - Torricelli et al 2019 - looked at patients with spontaneous pneumothorax and a family history of this condition. Pulmonary cysts were found in all patients with a FLCN-positive genetic test. Renal cysts were found in 4/13 (31%) patients.Created: 29 Apr 2021, 10:43 p.m. | Last Modified: 29 Apr 2021, 10:43 p.m.
Panel Version: 2.25
Birt Hogg Dube syndrome (caused by variants in FLCN) is frequently associated with multiple renal cysts, without renal enlargement or progressive CKD. Previous published data indicate simple renal cysts present in 31-45% (PMID: 31266032;19785621) of patients with BHD and audit of 20 patients I follow up revealed simple renal cysts in 11 (multiple in 9 of these individuals) i.e. similar to the literature. Therefore BHD should be considered in the differential diagnosis of multiple renal cysts (without renal enlargement).
Sources: Literature, Expert ReviewCreated: 22 Mar 2021, 12:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma
Publications
Tag Q2_21_rating was removed from gene: FLCN. Tag Q2_21_NHS_review was removed from gene: FLCN.
Source Expert Review Green was added to FLCN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_NHS_review tag was added to gene: FLCN.
Gene: flcn has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: FLCN.
Publications for gene: FLCN were set to PMID: 19785621; 31266032
Phenotypes for gene: FLCN were changed from renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma to Birt-Hogg-Dube syndrome, OMIM:135150; renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma
gene: FLCN was added gene: FLCN was added to Cystic kidney disease. Sources: Literature,Expert Review Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to PMID: 19785621; 31266032 Phenotypes for gene: FLCN were set to renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma Penetrance for gene: FLCN were set to Incomplete Review for gene: FLCN was set to GREEN