1. Genes and Genomic Entities
  2. PSPN

PSPN

persephin
OMIM: 602921, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PSPN in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease