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Fetal anomalies

Gene: TSHR

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

Convincing evidence for gene, no evidence of prenatal presentation. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHR gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 and Confirmed for HYPERTHYROIDISM, FAMILIAL GESTATIONAL.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame for HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, and Listed as Activating for HYPERTHYROIDISM, FAMILIAL GESTATIONAL.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperthyroidism, nonautoimmune, OMIM:609152
  • Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200
OMIM
603372
Clinvar variants
Variants in TSHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TSHR were changed from HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 to Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TSHR. Mode of inheritance for gene TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 for gene: TSHR Publications for gene: TSHR were updated from to 18655531; 15163335; 23295291; 9360555; 7800007

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to TSHR. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL for gene: TSHR

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TSHR was added gene: TSHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1