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Newborns main panel

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: 0.480
Created: 26 Sep 2024, 4:18 p.m.
Last Modified: 18 Nov 2025, 3:38 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 1727829 (1 family homozygous whole gene deletion), PMID: 1682340 (1 patient), PMID: 15191352 (1 patient)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thyroid hormone resistance, autosomal recessive
Tags
special_consideration
OMIM
190160
Clinvar variants
Variants in THRB
Penetrance
None
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 recessive

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

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to THRB. Mode of inheritance for gene THRB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thyroid hormone resistance for gene: THRB Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to THRB. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: THRB was added gene: THRB was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: THRB were set to Thyroid hormone resistance