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Cystic kidney disease v2.35 FLCN Eleanor Williams Tag Q2_21_rating was removed from gene: FLCN.
Tag Q2_21_NHS_review was removed from gene: FLCN.
Cystic kidney disease v2.35 FLCN Eleanor Williams commented on gene: FLCN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cystic kidney disease v2.34 FLCN Eleanor Williams Source Expert Review Green was added to FLCN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.27 FLCN Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: FLCN.
Cystic kidney disease v2.26 FLCN Eleanor Williams Classified gene: FLCN as Amber List (moderate evidence)
Cystic kidney disease v2.26 FLCN Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, with a recommendation for green rating at the next GMS review.
Cystic kidney disease v2.26 FLCN Eleanor Williams Gene: flcn has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v2.25 FLCN Eleanor Williams Tag Q2_21_rating tag was added to gene: FLCN.
Cystic kidney disease v2.25 FLCN Eleanor Williams commented on gene: FLCN
Cystic kidney disease v2.25 FLCN Eleanor Williams Publications for gene: FLCN were set to PMID: 19785621; 31266032
Cystic kidney disease v2.24 FLCN Eleanor Williams 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
Cystic kidney disease v2.23 FLCN Daniel Gale 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
Added comment: 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 Review