TRHR

thyrotropin releasing hormone receptor
OMIM: 188545, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TRHR 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 Not set
    Sources
    • Victorian Clinical Genetics Services
    Green TRHR in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • mild-moderate isolated central hypothyroidism
    • absent TSH and prolactin response to TRH
    • Thyrotropin-releasing hormone resistance, generalized