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Mendeliome

Gene: FLG

Green List (high evidence)

FLG (filaggrin)
EnsemblGeneIds (GRCh38): ENSG00000143631
EnsemblGeneIds (GRCh37): ENSG00000143631
OMIM: 135940, Gene2Phenotype
FLG is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association. The condition is semidominant, i.e. heterozygotes have either no discernible phenotype or milder ichthyosis, whereas biallelic cases have severe ichthyosis and an overt histologic skin barrier defect. Loss of function is the mechanism of disease.
Created: 10 May 2022, 11:33 p.m. | Last Modified: 10 May 2022, 11:33 p.m.
Panel Version: 0.14072

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Ichthyosis vulgaris MONDO:0024304

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis vulgaris MONDO:0024304
OMIM
135940
Clinvar variants
Variants in FLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 May 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris MONDO:0024304

10 May 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FLG were set to

10 May 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FLG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLG was added gene: FLG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLG was set to Unknown