Congenital hypothyroidism
Gene: TGEnsemblGeneIds (GRCh38): ENSG00000042832
EnsemblGeneIds (GRCh37): ENSG00000042832
OMIM: 188450, Gene2Phenotype
TG is in 3 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)
Subnormal serum TG despite elevated TSHCreated: 11 Feb 2017, 12:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
low thyroglobulin, goitre
Publications
- PMID: 23164529
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
- OMIM
- 188450
- Clinvar variants
- Variants in TG
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for TG was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for TG were set to 23164529
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre
Added New Source
Rebecca Foulger (Genomics England curator)TG was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Eligibility statement prior genetic testing
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3
Added New Source
Olivia Niblock (Genomics England Curator)TG was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: UKGTN
Created
Olivia Niblock (Genomics England Curator)TG was created by oniblock