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| Additional findings_Adult v1.125 | FLCN | Zornitza Stark Marked gene: FLCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.125 | FLCN | Zornitza Stark Gene: flcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.31 | FLCN | Zornitza Stark Classified gene: FLCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.31 | FLCN | Zornitza Stark Gene: flcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.30 | FLCN |
Zornitza Stark gene: FLCN was added gene: FLCN was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome (MIM#135150) Review for gene: FLCN was set to GREEN Added comment: BHDS is a rare condition characterized by renal tumors of varying histologic subtypes, cutaneous manifestations (cutaneous collagenomas and fibrofolliculomas, oral papules, and epidermal cysts), and pulmonary cysts (most often located in the basal lung regions), which can manifest as spontaneous pneumothoraces (with a clinical presentation ranging from asymptomatic to dyspnea and chest pain). Cutaneous perifollicular fibromas, acrochordons, and angiofibromas have also been associated with BHDS, but only fibrofolliculomas are specific for BHDS. Other findings reported in a small number of individuals includes thyroid nodules and cysts, thyroid cancer, colon polyps, colorectal cancer, parotid tumors, cutaneous-type oral papules, cutaneous melanomas, and various other tumor types. Initial screening for major clinical manifestations in individuals with BHDS includes screening for renal, lung and skin manifestations (including lung and pelvic CT). Referral to a cancer genetics professional should be considered. Sources: Expert list |
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