Ichthyosis
Gene: FLG

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygotes have incomplete penetrance and a mild phenotype, while homozygotes/compound heterozygotes are far more obviously affected
Created: 19 May 2020, 11:27 p.m. | Last Modified: 19 May 2020, 11:27 p.m.

Panel Version: 0.73

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

Phenotypes
Ichthyosis vulgaris 146700; {Dermatitis, atopic, susceptibility to, 2} 605803

Publications

PMID: 17291859
30681730

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

Created: 19 May 2020, 11:27 p.m.
Last Modified: 19 May 2020, 11:27 p.m.
Panel version: 0.73

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 146700
{Dermatitis, atopic, susceptibility to, 2} 605803

OMIM

135940

Clinvar variants

Variants in FLG

Penetrance

None

Publications

Panels with this gene