American Academy of Pediatrics

TABLE 1

Genes Associated With Thyroid Dysgenesis^100,101

Gene Name	Clinical Manifestations	Associated Syndrome	Inheritance Pattern
NKX2-1	Interstitial lung disease, chorea, hypotonia, developmental delay	—	Autosomal dominant, variable expressivity
FOXE1	Cleft palate, bifid epiglottis, choanal atresia, spiky hair	Bamforth-Lazarus syndrome	Autosomal recessive
PAX8	Urogenital abnormalities	—	Autosomal dominant
TSHR	—	—	Autosomal dominant or recessive
NKX2-5	Congenital heart disease	—	—
GLIS3	Neonatal diabetes, congenital glaucoma, developmental delay, hepatic fibrosis, polycystic kidneys	—	Autosomal recessive
JAG1	Congenital heart disease, involvement of liver, heart, eye, skeleton, facial defects	Alagille syndrome	Autosomal dominant
TBX1	Congenital heart malformations	22q11 deletion syndrome	Autosomal dominant, variable expressivity
NTN1	Arthrogryposis	—	Unknown
CDCA8	—	—	Autosomal recessive
TUBB1	Abnormal platelets	—	Autosomal dominant

Gene Name	Clinical Manifestations	Associated Syndrome	Inheritance Pattern
NKX2-1	Interstitial lung disease, chorea, hypotonia, developmental delay	—	Autosomal dominant, variable expressivity
FOXE1	Cleft palate, bifid epiglottis, choanal atresia, spiky hair	Bamforth-Lazarus syndrome	Autosomal recessive
PAX8	Urogenital abnormalities	—	Autosomal dominant
TSHR	—	—	Autosomal dominant or recessive
NKX2-5	Congenital heart disease	—	—
GLIS3	Neonatal diabetes, congenital glaucoma, developmental delay, hepatic fibrosis, polycystic kidneys	—	Autosomal recessive
JAG1	Congenital heart disease, involvement of liver, heart, eye, skeleton, facial defects	Alagille syndrome	Autosomal dominant
TBX1	Congenital heart malformations	22q11 deletion syndrome	Autosomal dominant, variable expressivity
NTN1	Arthrogryposis	—	Unknown
CDCA8	—	—	Autosomal recessive
TUBB1	Abnormal platelets	—	Autosomal dominant

—, not applicable.