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NGS for Endocrine


NGS FOR Endocrine

NGS For CHT Panel (22 Genes)

Title Phenotype Inheritance
PAX8 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia AD
POU1F1 pituitary hormone deficiency, combined, 1 AD, AR
TSHB hypothyroidism, congenital, nongoitrous 4 AR
THRA hypothyroidism, congenital, nongoitrous, 6 AD
TG {autoimmune thyroid disease, susceptibility to, 3}  
TG thyroid dyshormonogenesis 3 AR
THRB thyroid hormone resistance AD
THRB thyroid hormone resistance, autosomal recessive AR
THRB thyroid hormone resistance, selective pituitary AD
KDM6A kabuki syndrome 2 XLD
IGSF1 hypothyroidism, central, and testicular enlargement XLR
PROP1 pituitary hormone deficiency, combined, 2 AR
SLC5A5 thyroid dyshormonogenesis 1 AR
KMT2D kabuki syndrome 1 AD
TSHR hyperthyroidism, familial gestational  
TSHR hyperthyroidism, nonautoimmune AD
TSHR hypothyroidism, congenital, nongoitrous, 1 AR
TSHR thyroid adenoma, hyperfunctioning, somatic  
TSHR thyroid carcinoma with thyrotoxicosis  
SLC26A4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct AR
SLC26A4 pendred syndrome AR
UBR1 johanson-blizzard syndrome AR
TPO thyroid dyshormonogenesis 2a AR
DUOX2 thyroid dyshormonogenesis 6 AR
GLIS3 diabetes mellitus, neonatal, with congenital hypothyroidism AR
IYD thyroid dyshormonogenesis 4 AR
DUOXA2 thyroid dyshormonogenesis 5 AR