1. Panels
  2. Congenital hypothyroidism
  3. TRHR
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital hypothyroidism

Gene: TRHR

Green List (high evidence)
TRHR (thyrotropin releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000174417
EnsemblGeneIds (GRCh37): ENSG00000174417
OMIM: 188545, Gene2Phenotype
TRHR is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Non-goitrous congenital hypothyroidism-7 (CHNG7) is characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue. Multiple families reported.
Created: 7 Apr 2022, 10:52 a.m. | Last Modified: 7 Apr 2022, 10:52 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573

Publications

Created: 7 Apr 2022, 10:52 a.m.
Last Modified: 7 Apr 2022, 10:52 a.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
OMIM
188545
Clinvar variants
Variants in TRHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trhr has been classified as Green List (High Evidence).

7 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRHR were changed from mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRHR was added gene: TRHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRHR were set to PMID: 19213692; PMID: 9141550 Phenotypes for gene: TRHR were set to mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized