Ichthyosis and erythrokeratoderma

Gene: FLG2

Green List (high evidence)

FLG2 (filaggrin family member 2)
EnsemblGeneIds (GRCh38): ENSG00000143520
EnsemblGeneIds (GRCh37): ENSG00000143520
OMIM: 616284, Gene2Phenotype
FLG2 is in 3 panels

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: Sufficient number of variants in OMIM to rate as Green
Created: 12 Dec 2019, 4:12 p.m. | Last Modified: 12 Dec 2019, 4:12 p.m.
Panel Version: 0.18
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:FLG2; 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
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Peeling skin syndrome 6, OMIM: 618084
Clinvar variants
Variants in FLG2
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: flg2 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: FLG2 was added gene: FLG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal