TABLE 2

Genes Associated With Thyroid Dyshormonogenesis6,101 

Gene NameClinical ManifestationsAssociated SyndromeInheritance Pattern
TSHR — — Autosomal dominant or recessive 
GNAS Brachydactyly, round facies, ectopic ossifications, short stature, obesity, intellectual disability, hormone resistance Pseudohypoparathyroidism if maternally inherited; Albright hereditary osteodystrophy if paternally inherited Autosomal dominant with imprinting 
SLC5A5 — — Autosomal recessive 
SLC26A4 Sensorineural deafness with enlarged vestibular aqueduct Pendred syndrome Autosomal recessive 
DUOX2 — — Autosomal dominant or recessive 
DUOXA2 — — Autosomal recessive 
TPO — — Autosomal recessive 
TG — — Autosomal recessive 
IYD — — Autosomal recessive 
Gene NameClinical ManifestationsAssociated SyndromeInheritance Pattern
TSHR — — Autosomal dominant or recessive 
GNAS Brachydactyly, round facies, ectopic ossifications, short stature, obesity, intellectual disability, hormone resistance Pseudohypoparathyroidism if maternally inherited; Albright hereditary osteodystrophy if paternally inherited Autosomal dominant with imprinting 
SLC5A5 — — Autosomal recessive 
SLC26A4 Sensorineural deafness with enlarged vestibular aqueduct Pendred syndrome Autosomal recessive 
DUOX2 — — Autosomal dominant or recessive 
DUOXA2 — — Autosomal recessive 
TPO — — Autosomal recessive 
TG — — Autosomal recessive 
IYD — — Autosomal recessive 

—, not applicable.

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