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Facial papules

Gene: FLCN

Green List (high evidence)
FLCN (folliculin)
EnsemblGeneIds (GRCh38): ENSG00000154803
EnsemblGeneIds (GRCh37): ENSG00000154803
OMIM: 607273, Gene2Phenotype
FLCN is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Multiple facial papules (fibrofolliculomas) are a feature of the condition.
Sources: Expert list
Created: 19 Jun 2023, 12:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Birt-Hogg-Dube syndrome MONDO:0007607

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Jun 2023, 12:51 a.m.

Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Birt-Hogg-Dube syndrome MONDO:0007607
OMIM
607273
Clinvar variants
Variants in FLCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flcn has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flcn has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FLCN was added gene: FLCN was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to 20301695 Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome MONDO:0007607 Review for gene: FLCN was set to GREEN gene: FLCN was marked as current diagnostic