PanelApp (test)
  1. Genes and Genomic Entities
  2. THRB:Ensemblv115

THRB:Ensemblv115

thyroid hormone receptor beta
OMIM: 190160, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green THRB in Hyperthyroidism


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
  • Genomics England PanelApp
  • Expert Review Green
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
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