Congenital hypothyroidism
Gene: SLC5A5Comment when marking as ready: Rated green plus confirmed hypothryoidism gene on DD-G2P plus >3 cases.Created: 13 Feb 2017, 4:37 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.Created: 13 Feb 2017, 4:35 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green review plus >3 unrelated cases from varied populations (including Japanese, Brazilian, Hutterite). Plus confirmed DD-G2P gene for Thyroid dyshormonogenesis 1 (MIM:274400).Created: 13 Feb 2017, 4:34 p.m.
Phenotype ranging fro euthyroid goitre to severe CH, may be delayed onset. Absent uptake on nuclear medicine scan despite goitre or gland present on ultrasound.Created: 11 Feb 2017, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Apparent athyreosis on nuclear medicine scan; goitre; childhood onset 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).
Phenotypes for SLC5A5 were set to Thyroid dyshormonogenesis 1, 274400; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1; Apparent athyreosis on nuclear medicine scan; goitre; childhood onset hypothyroidism
Publications for SLC5A5 were set to 9171822;16418213
Mode of inheritance for SLC5A5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC5A5 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Other
SLC5A5 was created by rfoulger