DUOX2

dual oxidase 2
OMIM: 606759, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red DUOX2 in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • inflammatory bowel disease, MONDO:0005265
Amber DUOX2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.37
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • inflammatory bowel disease
  • MONDO:0005265
  • IBD
  • VEOIBD
Tags
  • watchlist_moi
  • Q3_26_promote_green
Green DUOX2 in Congenital hypothyroidism


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.3 (6 May 2026)

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