THRB

thyroid hormone receptor beta
OMIM: 190160, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red THRB in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	Not set	Sources Expert Review Red Emory Genetics Laboratory
Green THRB in Hyperthyroidism Level 2: Endocrinology Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Eligibility statement prior genetic testing Other Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Literature 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 Tags treatable
No list THRB in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Red THRB in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Amber THRB in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes compromised intellectual development
Green THRB in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 Tags treatable
Amber THRB in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes inherited retinal dystrophy, MONDO:0019118 Tags Q2_25_ promote_green Q2_25_ NHS_review watchlist
Red THRB in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	Unknown	Sources Expert Review Red