1. Panels
  2. Congenital hypothyroidism
  3. SLC26A4
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Congenital hypothyroidism

Gene: SLC26A4

Green List (high evidence)
SLC26A4 (solute carrier family 26 member 4)
EnsemblGeneIds (GRCh38): ENSG00000091137
EnsemblGeneIds (GRCh37): ENSG00000091137
OMIM: 605646, Gene2Phenotype
SLC26A4 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • enlarged vestibular aqueduct
  • Sensorineural deafness
  • partial iodide organification defect
  • mild hypothyroidism
  • Pendred syndrome, 274600 (congenital deafness and thyroid goitre)
  • goitre
  • Mondini defect
OMIM
605646
Clinvar variants
Variants in SLC26A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A4 was added gene: SLC26A4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A4 were set to 11932316; 9398842 Phenotypes for gene: SLC26A4 were set to enlarged vestibular aqueduct; Sensorineural deafness; partial iodide organification defect; mild hypothyroidism; Pendred syndrome, 274600 (congenital deafness and thyroid goitre); goitre; Mondini defect