Inherited non-medullary thyroid cancer
Gene: SLC5A5

SLC5A5 (solute carrier family 5 member 5)
EnsemblGeneIds (GRCh38): ENSG00000105641
EnsemblGeneIds (GRCh37): ENSG00000105641
OMIM: 601843, Gene2Phenotype
SLC5A5 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Created: 10 Jul 2017, 12:42 p.m.

Panel version: 0.33

Emma Woodward (Manchester Centre for Genomic Medicine)

Red List (low evidence)

I am not aware of evidence linking germline alterations of SLC5A5 to FNMTC
Created: 13 Jun 2017, 1:50 p.m.

Created: 13 Jun 2017, 1:50 p.m.

Panel version: 0.5

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Red List (low evidence)

No evidence of association with malignancy. Some evidence for association with benign thyroid disease, but not strong
Created: 9 Jun 2017, 8:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital hypothyroidism

Created: 9 Jun 2017, 8:30 a.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Follicular thyroid adenoma
Thyroid dyshormonogenesis 1 274400

OMIM

601843

Clinvar variants

Variants in SLC5A5

Penetrance

Complete

Publications

Panels with this gene