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  3. TSHR
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Cerebral Palsy

Gene: TSHR

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

2 individuals with LP variants reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature
Created: 27 May 2024, 2:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperthyroidism, nonautoimmune, MIM#609152

Publications

Created: 27 May 2024, 2:53 p.m.

Panel version: 1.194

Details

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

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tshr has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tshr has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: TSHR was added gene: TSHR was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSHR were set to PMID: 38693247 Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune, MIM#609152 Review for gene: TSHR was set to RED