Inherited non-medullary thyroid cancer
Gene: SLC5A5Comment when marking as ready: Associated with Thyroid dyshormonogenesis 1 274400 in OMIM and as a confirmed G2P. At least one variant (biallelic) reported in a the tumours of a patient with Thyroid dyshormonogenesis and reduced levels of SLC5A5 mRNA expression (PMID 9171822). Other studies report reduced SLC5A5 expression in thyroid tumours but do not assess for the presence of variants (9661633; 10487692). Restoration of expression reported in carcinoma cell line after demethylation of DNA in the untranslated region within the first exon of SLC5A5 (PMID 10404820)(no report that the cell lines harboured variants).Created: 10 Jul 2017, 12:42 p.m.
I am not aware of evidence linking germline alterations of SLC5A5 to FNMTCCreated: 13 Jun 2017, 1:50 p.m.
No evidence of association with malignancy. Some evidence for association with benign thyroid disease, but not strongCreated: 9 Jun 2017, 8:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hypothyroidism
All genes have been reviewed and the reviews evaluated. 07.08.2017
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC5A5 were set to 9171822; 9661633; 10487692; 9709973; 26960757
Publications for SLC5A5 were set to 9171822; 9661633; 10487692; 9709973
Phenotypes for SLC5A5 were set to Follicular thyroid adenoma; Thyroid dyshormonogenesis 1 274400
SLC5A5 was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen
SLC5A5 was added to Inherited non-medullary thyroid cancerpanel. Source: Literature
SLC5A5 was created by sleigh
SLC5A5 was added to Inherited non-medullary thyroid cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services