Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Congenital hypothyroidism v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: THRB were set to 24847459
Phenotypes for gene: THRB were set to HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance, Selective Pituitary; Resistance to thyroid hormone (RTH); 145650; PRTH; REFETOFF SYNDROME; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; thyroid hormone unresponsiveness, generalized RTH, RTH beta; Thyroid Hormone Resistance (monoallelic); Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650; THYROID HORMONE UNRESPONSIVENESS; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES; Refetoff syndrome; GRTH