NGS FOR Endocrine
| 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 |
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