1. Panels
  2. Congenital hypothyroidism
  3. SLC26A7
STRs in panel
Prev Next

Congenital hypothyroidism

Gene: SLC26A7

Green List (high evidence)
SLC26A7 (solute carrier family 26 member 7)
EnsemblGeneIds (GRCh38): ENSG00000147606
EnsemblGeneIds (GRCh37): ENSG00000147606
OMIM: 608479, Gene2Phenotype
SLC26A7 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. SLC26A7 is not associated with a phenotype in OMIM or Gene2Phenotype; however, there is enough evidence to support promoting this gene to green status. PMID: 29546359 describes a Saudi Arabian family with 2 affected daughters who are homozygous for two tandem SLC26A7 deletions (located next to each other). Slc26a7 knockout mice exhibit hypothyroidism and hyperplastic thyroid changes.

PMID: 30333321 describes 6 families with congenital hypothyroidism. 2 Pakistani families with consanguineous parents, 1 Turkish family with consanguineous parents and 3 Finnish families with non-consanguineous parents. The Pakistani and Turkish families have the same homozygous nonsense variant and the Finnish families have the same homozygous frameshift variant. The study also included a Slc26a7-null mouse model that exhibited hypothyoidism phenotype.
Created: 19 Jun 2019, 2:34 p.m.
Created: 19 Jun 2019, 2:34 p.m.

Panel version: 1.27

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary congenital hypothyroidism (dyshormonogenesis), OMIM 608479

Created: 18 Jun 2019, 4:14 p.m.

Panel version: 1.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • East of England GLH
Phenotypes
  • Primary congenital hypothyroidism (dyshormonogenesis)
Tags
gene-checked
OMIM
608479
Clinvar variants
Variants in SLC26A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SLC26A7.

19 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc26a7 has been classified as Green List (High Evidence).

19 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SLC26A7 were set to

18 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SLC26A7 was added gene: SLC26A7 was added to Congenital hypothyroidism. Sources: East of England GLH Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis)