THRB

thyroid hormone receptor beta
OMIM: 190160
PanelMode of inheritanceDetails
2 panels
R-numbers: R145
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Resistance to thyroid hormone (RTH), THYROID HORMONE UNRESPONSIVENESS, 145650, REFETOFF SYNDROME, PRTH, Thyroid hormone resistance, autosomal recessive, 274300, Refetoff syndrome, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, thyroid hormone unresponsiveness, generalized RTH, RTH beta, Thyroid hormone resistance, 188570, THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE, Thyroid Hormone Resistance (monoallelic), Thyroid hormone resistance, selective pituitary, 145650, HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION, GRTH, Thyroid Hormone Resistance, Selective Pituitary, THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
R-numbers: R182
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Resistance to thyroid hormone (RTH), thyroid hormone unresponsiveness, generalized RTH, RTH beta, Refetoff syndrome, Thyroid Hormone Resistance, Selective Pituitary, PRTH, 145650, Thyroid hormone resistance, 188570, Thyroid hormone resistance, autosomal recessive, 274300, Thyroid hormone resistance, selective pituitary, 145650, Thyroid Hormone Resistance (monoallelic), THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, GRTH, THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES, THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE, THYROID HORMONE UNRESPONSIVENESS, REFETOFF SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION