Ichthyosis and erythrokeratoderma

Gene: FLG

Green List (high evidence)

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

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: Sufficient evidence and phenotype to be relevant as Green in the panel
Created: 12 Dec 2019, 2:50 p.m. | Last Modified: 12 Dec 2019, 2:50 p.m.
Panel Version: 0.11
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:FLG; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.10


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Green
  • Ichthyosis vulgaris, OMIM:146700
Clinvar variants
Variants in FLG
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700

12 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: FLG were set to

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: FLG was added gene: FLG was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown