Congenital hypothyroidismGene: SLC26A7
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Primary congenital hypothyroidism (dyshormonogenesis), OMIM 608479
Gene: slc26a7 has been classified as Green List (High Evidence).
Publications for gene: SLC26A7 were set to
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)