Congenital hypothyroidism

Gene: SLC5A5

Green List (high evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Thyroid dyshormonogenesis 1, 274400
  • HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
  • Apparent athyreosis on nuclear medicine scan
  • goitre
  • childhood onset hypothyroidism
OMIM
601843
Clinvar variants
Variants in SLC5A5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Feb 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

13 Feb 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SLC5A5 were set to 9171822;16418213

13 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SLC5A5 was changed to BIALLELIC, autosomal or pseudoautosomal

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SLC5A5 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Other

23 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC5A5 was created by rfoulger