Epidermolysis bullosa and congenital skin fragility

Gene: FLG2

Green List (high evidence)

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

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team FLG2 can be classified as Green.
Created: 4 Dec 2019, 10:34 a.m. | Last Modified: 4 Dec 2019, 10:34 a.m.
Panel Version: 0.24
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: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, OMIM:618084
OMIM
616284
Clinvar variants
Variants in FLG2
Penetrance
None
Panels with this gene

History Filter Activity

24 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

4 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).

4 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 Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal