Genomics England
GMS Panels
Panels
Genes and Entities

DUOXA2

dual oxidase maturation factor 2
OMIM: 612772
PanelMode of inheritanceDetails
1 panel
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Thyroid dyshormonogenesis 5, 274900, HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5, eutopic gland-in-situ, mild congenital hypothyroidism, transient congenital hypothyroidism