| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperthyroidism v0.8 | THRB | Zornitza Stark Marked gene: THRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | THRB | Zornitza Stark Gene: thrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | THRB | Zornitza Stark Phenotypes for gene: THRB were changed from Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.7 | THRB | Zornitza Stark Publications for gene: THRB were set to 24847459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.6 | THRB | Zornitza Stark Mode of pathogenicity for gene: THRB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.5 | THRB | Zornitza Stark Mode of inheritance for gene: THRB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.4 | THRB |
Anna Le Fevre changed review comment from: Monoallelic variants in THRB can cause a dominant negative effect as the altered receptor inhibits the function of the wild-type thyroid hormone receptor (THR) β. This can lead to elevated thyroid hormone signaling through THRα receptors. Diagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management. Different variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes. Biallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα.; to: Monoallelic variants in THRB can cause a dominant negative effect due to an altered thyroid hormone receptor (THR) β inhibiting the function of the wild-type THRβ. This can lead to elevated thyroid hormone signaling through THRα receptors. Diagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management. Different variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes. Biallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα. |
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| Hyperthyroidism v0.4 | THRB | Anna Le Fevre reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 31590893; Phenotypes: #188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, #274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE, #145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.0 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to Hyperthyroidism. Sources: Genomics England PanelApp,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 Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES |
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