DUOX2

dual oxidase 2
OMIM: 606759, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green DUOX2 in Congenital hypothyroidism


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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital hypothyroidism
  • Thryoid dyshormonogenesis 6, 607200
  • permanent congenital hypothyroidism
  • transient congenital hypothyroidism
  • eutopic gland-in-situ
  • goitre
  • borderline congenital hypothyroidism
  • iodide organification defect
Tags
  • monogenic-polygenic