Hyperthyroidism

Gene: TSHR

Green List (high evidence)

TSHR (thyroid stimulating hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000165409
EnsemblGeneIds (GRCh37): ENSG00000165409
OMIM: 603372, Gene2Phenotype
TSHR is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

New gene added by reviewer. Promoted to green status. TSHR is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with congenital nonautoimmune hyperthyroidism in OMIM. Therefore, there is enough evidence to promote this gene to green status.
Created: 11 Jul 2019, 12:43 p.m. | Last Modified: 11 Jul 2019, 12:43 p.m.
Panel Version: 1.8

krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

Green List (high evidence)

Phenotypes
Congenital, nonautoimmune hyperthyroidism

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital, nonautoimmune hyperthyroidism
  • Hyperthyroidism, nonautoimmune, 609152
OMIM
603372
Clinvar variants
Variants in TSHR
Penetrance
None
Panels with this gene

History Filter Activity

11 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TSHR was added gene: TSHR was added to Hyperthyroidism. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSHR were set to Congenital, nonautoimmune hyperthyroidism; Hyperthyroidism, nonautoimmune, 609152