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  3. FLCN
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Fetal anomalies

Gene: FLCN

Red List (low evidence)
FLCN (folliculin)
EnsemblGeneIds (GRCh38): ENSG00000154803
EnsemblGeneIds (GRCh37): ENSG00000154803
OMIM: 607273, Gene2Phenotype
FLCN is in 12 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Relatively common genetic condition - 1/200 000 but recent estimates suggest may be much higher. Only 1 case report of antenatal presentation of lung cysts (19483054). Not a common cause of lung cysts on antenatal scan. I propose red.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pneumothorax, primary spontaneous, MIM#173600; Birt-Hogg-Dube syndrome, MIM#135150

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

History Filter Activity

20 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FLCN was added gene: FLCN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to 19785621; 31266032 Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, 135150; Pneumothorax, primary spontaneous, OMIM:173600