Palmoplantar keratodermas

Gene: FLG

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.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?): Hard to sequence with short-read sequencing (highly repetitive).
Created: 28 Jan 2019, 10:47 a.m.

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


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • London North GLH
  • Expert Review Green
Clinvar variants
Variants in FLG
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: FLG were set to

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to FLG.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FLG was added gene: FLG was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS