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  3. TSHR
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Hyperthyroidism

Gene: TSHR

Green List (high evidence)
TSHR (thyroid stimulating hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000165409
EnsemblGeneIds (GRCh37): ENSG00000165409
OMIM: 603372, Gene2Phenotype
TSHR is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Activating mutations in TSHR cause hyperthyroidism.
Created: 8 Oct 2020, 4:49 a.m. | Last Modified: 8 Oct 2020, 4:49 a.m.
Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperthyroidism, nonautoimmune, MIM# 609152

Publications

Created: 8 Oct 2020, 4:49 a.m.
Last Modified: 8 Oct 2020, 4:49 a.m.
Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hyperthyroidism, nonautoimmune, MIM# 609152
OMIM
603372
Clinvar variants
Variants in TSHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSHR were changed from Hyperthyroidism, nonautoimmune, 609152; Congenital, nonautoimmune hyperthyroidism to Hyperthyroidism, nonautoimmune, MIM# 609152

8 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSHR were set to

8 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSHR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSHR was added gene: TSHR was added to Hyperthyroidism. Sources: Genomics England PanelApp,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 Hyperthyroidism, nonautoimmune, 609152; Congenital, nonautoimmune hyperthyroidism