1. Panels
  2. Newborns additional phenotypes panel 1
  3. THRB
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns additional phenotypes panel 1

Gene: THRB

Green List (high evidence)
THRB (thyroid hormone receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000151090
EnsemblGeneIds (GRCh37): ENSG00000151090
OMIM: 190160, Gene2Phenotype
THRB is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Thyroid hormone resistance are included.
Created: 26 Sep 2024, 4:18 p.m. | Last Modified: 18 Nov 2025, 3:38 p.m.
Panel Version: 0.102
Created: 26 Sep 2024, 4:18 p.m.
Last Modified: 18 Nov 2025, 3:38 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTH?) - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.27
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Thyroid hormone resistance, autosomal dominant
Tags
special_consideration
OMIM
190160
Clinvar variants
Variants in THRB
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: THRB.

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: THRB were changed from Thyroid hormone resistance to Thyroid hormone resistance, autosomal dominant

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid hormone resistance for gene: THRB

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to THRB. Added phenotypes Thyroid hormone resistance for gene: THRB Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: THRB was added gene: THRB was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THRB were set to Thyroid hormone resistance Mode of pathogenicity for gene: THRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments