Congenital hypothyroidism
Gene: TGmonogenic-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.
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
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.
Publications for TG were set to 23164529; 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TG was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for TG were set to 23164529
Phenotypes for TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre
TG was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Eligibility statement prior genetic testing
Phenotypes for gene TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3
TG was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: UKGTN
TG was created by oniblock