Genomics England
GMS Panels
Panels
Genes and Entities

IYD

iodotyrosine deiodinase
OMIM: 612025
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
Congenital hypothyroidism, Thyroid dyshormonogenesis 4, 274800, goitre, childhood/adolescent onset hypothyroidism, normal iodide organification, raised urinary MIT and DIT