PERP

PERP, TP53 apoptosis effector
OMIM: 609301, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PERP in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Olmsted syndrome-2, MIM# 619208, MONDO:003091
  • Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941
  • Ichthyosis, MONDO:0019269
Green PERP in Palmoplantar keratodermas


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Olmsted syndrome-2, MIM# 619208, MONDO:003091
  • Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941
  • Ichthyosis, MONDO:0019269