Congenital hypothyroidism

Gene: TSHB

Green List (high evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated green, confirmed DD-G2P gene for hypothyroidism, and >3 cases supporting gene:disease association.
Created: 13 Feb 2017, 4:54 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 13 Feb 2017, 4:53 p.m.
Comment on list classification: Updated rating from Red to Green: 1 green review plus >3 unrelated cases of TSHB mutations causing hypothyroidism in multiple populations (including Greek, Brazilian, Egyptian). Plus confirmed DD-G2P gene for ' Hypothryoidism, congenital, nongoitrous 4 (MIM:275100).
Created: 13 Feb 2017, 4:53 p.m.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Severe isolated central CH with preserved prolactin response to TRH but absent TSH response
Created: 11 Feb 2017, 12:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe isolated central hypothyroidism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital hypothyroidism
  • Hypothryoidism, congenital, nongoitrous 4, 275100
  • severe isolated central hypothyroidism
OMIM
188540
Clinvar variants
Variants in TSHB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for TSHB was changed to BIALLELIC, autosomal or pseudoautosomal

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TSHB were set to 2792087; 27362444

13 Feb 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for TSHB were set to Congenital hypothyroidism; Hypothryoidism, congenital, nongoitrous 4, 275100; severe isolated central hypothyroidism

23 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

TSHB was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Other

13 Oct 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

TSHB was created by oniblock

13 Oct 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TSHB was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Illumina TruGenome Clinical Sequencing Services