FLCN

folliculin
OMIM: 607273, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FLCN in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Birt-Hogg-Dube syndrome (MIM#135150)
  • Pneumothorax, primary spontaneous (MIM#173600)

Green FLCN in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Birt-Hogg-Dube syndrome

Green FLCN in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red FLCN in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Birt-Hogg-Dube syndrome, MIM# 135150

Green FLCN in Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Literature
Phenotypes
  • Pneumothorax, primary spontaneous, OMIM:173600
  • Birt-Hogg-Dube Syndrome, OMIM:135150

Green FLCN in Facial papules


Level 2: Dermatological disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Birt-Hogg-Dube syndrome MONDO:0007607

Green FLCN in Kidney Cancer


Level 2: Cancer Predisposition
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Birt-Hogg-Dube syndrome 1, MONDO:0800445
  • Birt-Hogg-Dube syndrome, MIM#135150