FLG:Ensemblv90

filaggrin
OMIM: 135940, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FLG in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.23

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis vulgaris 146700
  • {Dermatitis, atopic, susceptibility to, 2} 605803

Green FLG in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis vulgaris MONDO:0024304

Red FLG in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Ichthyosis vulgaris

Red FLG in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ichthyosis vulgaris

Green FLG in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 2.0

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ichthyosis vulgaris 146700
  • {Dermatitis, atopic, susceptibility to, 2} 605803