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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Most are asymptomatic and detected on newborn screening.
Created: 2 Mar 2020, 3:03 a.m. | Last Modified: 2 Mar 2020, 3:03 a.m.
Panel Version: 0.2340

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200
OMIM
603372
Clinvar variants
Variants in TSHR
Penetrance
None
Panels with this gene

History Filter Activity

2 Mar 2020, 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).

2 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSHR were changed from to Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200

2 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

2 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Mar 2020, 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).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSHR was added gene: TSHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSHR was set to Unknown