Inherited non-medullary thyroid cancer

Gene: SLC5A5

Amber List (moderate evidence)

SLC5A5 (solute carrier family 5 member 5)
EnsemblGeneIds (GRCh38): ENSG00000105641
EnsemblGeneIds (GRCh37): ENSG00000105641
OMIM: 601843, Gene2Phenotype
SLC5A5 is in 7 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.

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.

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

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

History Filter Activity

7 Aug 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

All genes have been reviewed and the reviews evaluated. 07.08.2017

10 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Jul 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC5A5 were set to 9171822; 9661633; 10487692; 9709973; 26960757

10 Jul 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC5A5 were set to 9171822; 9661633; 10487692; 9709973

10 Jul 2017, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC5A5 were set to Follicular thyroid adenoma; Thyroid dyshormonogenesis 1 274400

18 May 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SLC5A5 was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen

18 May 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC5A5 was added to Inherited non-medullary thyroid cancerpanel. Source: Literature

18 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC5A5 was created by sleigh

18 May 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC5A5 was added to Inherited non-medullary thyroid cancerpanel. Sources: Illumina TruGenome Clinical Sequencing Services