THRB

thyroid hormone receptor beta
OMIM: 190160, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red THRB in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory

Green THRB in Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.0

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 2.0

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Red THRB in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.4

review Not set
Sources
  • Expert

Red THRB in Growth failure in early childhood


Version 1.3

review Unknown
Sources
  • Expert Review Red

Amber THRB in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

Component of the following Super Panels:

  • Paediatric disorders v4.376
  • White matter disorders - childhood onset v4.208
  • Hypotonic infant with a likely central cause v3.1028
  • 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 2.0

    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