TRHR

thyrotropin releasing hormone receptor
OMIM: 188545, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TRHR in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Red TRHR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7
  • OMIM #618573
Red TRHR in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Thyrotropin-releasing hormone resistance, generalized
Green TRHR in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Green TRHR in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Tags
  • treatable
  • endocrine