DUOXA2

dual oxidase maturation factor 2
OMIM: 612772, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green DUOXA2 in Congenital hypothyroidism


Level 2: Endocrinology
Version 3.3
Latest signed off version: v3.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Thyroid dyshormonogenesis 5, 274900
  • HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5
  • eutopic gland-in-situ
  • mild congenital hypothyroidism
  • transient congenital hypothyroidism
Tags
  • deletions
  • monogenic-polygenic