1. Panels
  2. Palmoplantar keratodermas
  3. FLG2
STRs in panel
Prev Next
Regions in panel
Prev Next

Palmoplantar keratodermas

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 12:38 p.m. | Last Modified: 6 Dec 2024, 12:38 p.m.
Panel Version: 3.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Dec 2024, 12:38 p.m.
Last Modified: 6 Dec 2024, 12:38 p.m.
Panel version: 3.27

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
Created: 31 Oct 2023, 4:53 p.m. | Last Modified: 31 Oct 2023, 4:53 p.m.
Panel Version: 3.13
Created: 31 Oct 2023, 4:53 p.m.
Last Modified: 31 Oct 2023, 4:53 p.m.
Panel version: 3.13

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert list
Created: 5 May 2023, 3:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
peeling skin syndrome-6 (PSS6) (MIM 618084)

Publications

Created: 5 May 2023, 3:08 p.m.

Panel version: 3.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, OMIM: 618084
OMIM
616284
Clinvar variants
Variants in FLG2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: FLG2. Tag Q4_23_NHS_review was removed from gene: FLG2.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to FLG2. Source NHS GMS was added to FLG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Oct 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: FLG2. Tag Q4_23_NHS_review tag was added to gene: FLG2.

31 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: flg2 has been classified as Amber List (Moderate Evidence).

31 Oct 2023, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FLG2 were set to PubMed: 28884927; 29505760

31 Oct 2023, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FLG2 were changed from peeling skin syndrome-6 (PSS6) (MIM 618084) to Peeling skin syndrome 6, OMIM: 618084

5 May 2023, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

gene: FLG2 was added gene: FLG2 was added to Palmoplantar keratodermas. Sources: Expert list Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG2 were set to PubMed: 28884927; 29505760 Phenotypes for gene: FLG2 were set to peeling skin syndrome-6 (PSS6) (MIM 618084) Penetrance for gene: FLG2 were set to unknown Review for gene: FLG2 was set to GREEN