FLG

filaggrin
OMIM: 135940, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FLG in Ichthyosis and erythrokeratoderma


Version 1.73
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis vulgaris, OMIM:146700

Green FLG in Palmoplantar keratodermas


Version 1.18
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ICHTHYOSIS VULGARIS

Amber FLG in Rare genetic inflammatory skin disorders


Version 1.54
Latest signed off version: v1.6 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Eczema
  • Ichthyosis vulgaris 146700
  • Ichthyosis vulgaris

Red FLG in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • ICHTHYOSIS VULGARIS 146700