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Newborns main panel

Gene: TSHR

Green List (high evidence)
TSHR (thyroid stimulating hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000165409
EnsemblGeneIds (GRCh37): ENSG00000165409
OMIM: 603372, Gene2Phenotype
TSHR is in 6 panels

1 review

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
The Thyrotropin Receptor Mutation Database Update - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
are we not interested in AD hyperthyroidism? -> KS: The hypothyroisism phenotype is only AR.
Created: 17 May 2023, 1:53 p.m. | Last Modified: 17 May 2023, 1:53 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:53 p.m.
Last Modified: 17 May 2023, 1:53 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 1
OMIM
603372
Clinvar variants
Variants in TSHR
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, nongoitrous, 1 for gene: TSHR

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 TSHR. Added phenotypes Hypothyroidism, congenital, nongoitrous, 1 for gene: TSHR 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 TSHR. Mode of inheritance for gene TSHR 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 Hypothyroidism, congenital, nongoitrous, 1 for gene: TSHR Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, nongoitrous, 1 for gene: TSHR

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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