SLURP1

secreted LY6/PLAUR domain containing 1
OMIM: 606119, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLURP1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Meleda disease, 248300
  • Mal de Meleda (MDM)
  • keratosis palmoplantaris transgrediens
  • palmoplantar keratoderma
  • Diffuse palmoplantar keratoderma
Green SLURP1 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meleda disease, OMIM:248300
Green SLURP1 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Meleda disease, OMIM:248300