1. Genes and Genomic Entities
  2. PERP

PERP

PERP, TP53 apoptosis effector
OMIM: 609301, Gene2Phenotype

2 panels

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


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Olmsted syndrome-2, MIM# 619208, MONDO:003091
  • Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941
  • Ichthyosis, MONDO:0019269
Tags
  • Q4_22_promote_green
Amber PERP in Palmoplantar keratodermas


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
Tags
  • Q4_22_promote_green