Congenital hypothyroidism
Gene: TSHBComment 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.
Severe isolated central CH with preserved prolactin response to TRH but absent TSH responseCreated: 11 Feb 2017, 12:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe isolated central hypothyroidism
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TSHB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for TSHB were set to 2792087; 27362444
Phenotypes for TSHB were set to Congenital hypothyroidism; Hypothryoidism, congenital, nongoitrous 4, 275100; severe isolated central hypothyroidism
TSHB was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Other
TSHB was created by oniblock
TSHB was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Illumina TruGenome Clinical Sequencing Services