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 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.5
Latest signed off version: v2.2 (25 Feb 2020)

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