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  2. Congenital hypothyroidism
  3. TPO
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Congenital hypothyroidism

Gene: TPO

Green List (high evidence)
TPO (thyroid peroxidase)
EnsemblGeneIds (GRCh38): ENSG00000115705
EnsemblGeneIds (GRCh37): ENSG00000115705
OMIM: 606765, Gene2Phenotype
TPO is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism
  • Iodide organification defect
  • goitre
  • TDH2A
  • Thyroid dyshormonogenesis 2A, 274500
OMIM
606765
Clinvar variants
Variants in TPO
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: TPO was added gene: TPO was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPO were set to 12938097; 27166716; 8964831; 11061528; 8027236; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease Phenotypes for gene: TPO were set to Congenital hypothyroidism; Iodide organification defect; goitre; TDH2A; Thyroid dyshormonogenesis 2A, 274500