Congenital hypothyroidism

Gene: TG

Green List (high evidence)

TG (thyroglobulin)
EnsemblGeneIds (GRCh38): ENSG00000042832
EnsemblGeneIds (GRCh37): ENSG00000042832
OMIM: 188450, Gene2Phenotype
TG is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

monogenic-polygenic tag added based on Nicholas et al., 2016 (PMID:27525530) who report triallelic (digenic) mutations in TG and TPO (1 case) and in DUOX2 and TG (6 cases).
Created: 16 Feb 2017, 4:40 p.m.
Comment when marking as ready: Rated green plus multiple unrelated cases supporting the gene:hypothyroidism association.
Created: 13 Feb 2017, 4:50 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green review plus >3 unrelated cases of TG mutations causing hypothyroidism.
Created: 13 Feb 2017, 4:49 p.m.
Lots of unrelated cases in OMIM of TG mutations causing hypothyroidism. Plus PMID:23164529 (Citterio et al., 2013) report 13 patients (from 7 unrelated families) with hypothyroidism due to thyroglobulin (TG) gene mutations. Molecular analyses revealed 7 novel and 3 previously identified inactivating TG mutations.
Created: 13 Feb 2017, 4:46 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 13 Feb 2017, 4:38 p.m.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Subnormal serum TG despite elevated TSH
Created: 11 Feb 2017, 12:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
low thyroglobulin, goitre

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Congenital hypothyroidism
  • Thyroid dyshormonogenesis 3, 274700
  • TDH3
  • low thyroglobulin, goitre
Tags
monogenic-polygenic
OMIM
188450
Clinvar variants
Variants in TG
Penetrance
Complete
Publications
  • 23164529
  • 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.
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.

16 Feb 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TG were set to 23164529; 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.

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

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 Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

13 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TG were set to 23164529

13 Feb 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre

23 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

TG was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Eligibility statement prior genetic testing

23 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3

13 Oct 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TG was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: UKGTN

13 Oct 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

TG was created by oniblock