Genomics England
GMS Panels
Panels
Genes and Entities

DUOX2

dual oxidase 2
OMIM: 606759
PanelMode of inheritanceDetails
1 panel
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Congenital hypothyroidism, Thryoid dyshormonogenesis 6, 607200, permanent congenital hypothyroidism, transient congenital hypothyroidism, eutopic gland-in-situ, goitre, borderline congenital hypothyroidism, iodide organification defect