1. Panels
  2. Congenital hypothyroidism
  3. SLC5A5
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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 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Apparent athyreosis on nuclear medicine scan
  • childhood onset hypothyroidism
  • goitre
  • Thyroid dyshormonogenesis 1, 274400
  • HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
OMIM
601843
Clinvar variants
Variants in SLC5A5
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: SLC5A5 was added gene: SLC5A5 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A5 were set to 9171822; 16418213 Phenotypes for gene: SLC5A5 were set to Apparent athyreosis on nuclear medicine scan; childhood onset hypothyroidism; goitre; Thyroid dyshormonogenesis 1, 274400; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1