ECE1

endothelin converting enzyme 1
OMIM: 600423, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber ECE1 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 Amber
  • Radboud University Medical Center, Nijmegen
  • Alder Hey - Erasmus MC
Phenotypes
  • ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870
Tags
  • watchlist
Amber ECE1 in Paediatric pseudo-obstruction syndrome


Version 1.5
Latest signed off version: v1.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870