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.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary congenital hypothyroidism (dyshormonogenesis), OMIM 608479

Details

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

History Filter Activity

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)