| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v1.9 | THRB | Ellen McDonagh Tag treatable tag was added to gene: THRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.9 | THRB | Ellen McDonagh commented on gene: THRB: To expand the scope of this panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.8 | THRB |
Ellen McDonagh gene: THRB was added gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green 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 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 |
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