thyrotropin releasing hormone receptor
OMIM: 188545, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red TRHR in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.66
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    • Victorian Clinical Genetics Services

    Green TRHR in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.3
    Signed off v.2.2 on 25 Feb 2020

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