Newborns main panel
Gene: TSHB

TSHB (thyroid stimulating hormone beta)
EnsemblGeneIds (GRCh38): ENSG00000134200
EnsemblGeneIds (GRCh37): ENSG00000134200
OMIM: 188540, Gene2Phenotype
TSHB is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 15297803 (4 families), PMID: 27362444 (3 families), PMID: 12364478 (6 unrelated families - same founder variant)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Exon 1 of TSHB is untranslated
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hypothyroidism, congenital, nongoitrous 4

OMIM

188540

Clinvar variants

Variants in TSHB

Penetrance

None

Panels with this gene