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 1.69	review	Not set	Sources Expert Review Red Emory Genetics Laboratory
Green THRB in Hyperthyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 3.4 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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	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 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.39 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Red THRB in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	review	Unknown	Sources Expert Review Red
Amber THRB in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) 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 3: Thyroid disorders Level 2: Endocrine disorders Version 2.18 Latest signed off version: v2.2 (25 Feb 2020)	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
Green THRB in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Thyroid hormone resistance, selective pituitary, 145650 Thyroid hormone resistance, 188570 Thyroid hormone resistance, autosomal recessive, 274300