FLCN folliculin

Gene ID: 201163, updated on 11-Apr-2024
Gene type: protein coding
Also known as: BHD; FLCL; DENND8B

Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Birt-Hogg-Dube syndrome MedGen: C0346010GeneReviews: Birt-Hogg-Dube Syndrome	See labs
Birt-Hogg-Dube syndrome 1 MedGen: CN375946OMIM: 135150GeneReviews: Birt-Hogg-Dube Syndrome	not available
Colorectal cancer MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome	See labs
Familial spontaneous pneumothorax MedGen: C1868193OMIM: 173600GeneReviews: Not available	See labs
Nonpapillary renal cell carcinoma MedGen: CN074294OMIM: 144700GeneReviews: Not available	See labs
Potocki-Lupski syndrome MedGen: C2931246OMIM: 610883GeneReviews: Potocki-Lupski Syndrome	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-01-11) ClinGen Genome Curation Page

Genomic context

Location:: 17p11.2

Sequence:: Chromosome: 17; NC_000017.11 (17212212..17237330, complement)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FLCN variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Folliculin (FLCN) @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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