Thyroid Dyshormonogenesis 3 (TG)

Thyroid dyshormonogenesis 3 is an autosomal recessive disorder caused by pathogenic variants in the gene TG. The clinical symptoms for this disorder can range from mild to severe and present at birth, during childhood, or in adulthood. Phenotypes for this disorder include goiter, stunted growth, delayed bone age, umbilical hernia, impaired motor coordination, speech difficulties, pale dry skin, cognitive deficits, and macroglossia. Affected individuals also have a high incidence of thyroid cancer. Life expectancy information for this disorder is currently unknown. Lower neurocognitive outcomes have been reported in infants in whom treatment was started after 30 days of age.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):