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Prepair 1000+

Gene: TSHB

Green List (high evidence)
TSHB (thyroid stimulating hormone beta)
EnsemblGeneIds (GRCh38): ENSG00000134200
EnsemblGeneIds (GRCh37): ENSG00000134200
OMIM: 188540, Gene2Phenotype
TSHB is in 8 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31384098 "In all cases, the inheritance of TSHB defects is autosomal recessive. Almost all patients with a TSHB defect develop severe symptoms of congenital hypothyroidism after birth. A delay in diagnosis and thyroid hormone replacement therapy results in poorer psychomotor development... Patients showed symptoms of severe congenital hypothyroidism, such as failure to thrive, prolonged jaundice, and developmental delay."

Severe early onset and better outcomes if treated early, reviewed as green.
Created: 13 Dec 2024, 4:11 a.m. | Last Modified: 13 Dec 2024, 4:11 a.m.
Panel Version: 1.761

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypothyroidism, congenital, nongoitrous 4 MIM#275100

Publications

Created: 13 Dec 2024, 4:11 a.m.
Last Modified: 13 Dec 2024, 4:11 a.m.
Panel version: 1.761

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
OMIM
188540
Clinvar variants
Variants in TSHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSHB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 (3) for gene: TSHB

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSHB was added gene: TSHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)