PPL

periplakin
OMIM: 602871, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PPL in Mendeliome


Version 2.336

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Eosinophilic esophagitis, MONDO:0005361

Green PPL in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Eosinophilic esophagitis, MONDO:0005361