THRB

thyroid hormone receptor beta
OMIM: 190160, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green THRB in Mendeliome Version 2.22	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid hormone resistance, MIM# 188570 Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, selective pituitary, MIM# 145650 Macular dystrophy, MONDO:0031166, THRB-related
Amber THRB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, autosomal dominant, MIM# 188570
Amber THRB in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 1.0 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Macular dystrophy, MONDO:0031166, THRB-related
Green THRB in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid hormone resistance
Green THRB in Hyperthyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Thyroid hormone resistance, MIM# 188570 Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, selective pituitary, MIM# 145650
Green THRB in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes 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
Amber THRB in Fetal anomalies Version 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Thyroid hormone resistance, autosomal recessive - MIM#274300 Thyroid hormone resistance - MIM#188570 Thyroid hormone resistance, selective pituitary - MIM#145650
Red THRB in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Thyroid hormone resistance, MIM# 188570 Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, selective pituitary, MIM# 145650