1. Genes and Genomic Entities
  2. TRHR

TRHR

thyrotropin releasing hormone receptor
OMIM: 188545, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TRHR in Intellectual disability


Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

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 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    		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