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Additional findings_Paediatric

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
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 2A
OMIM
606765
Clinvar variants
Variants in TPO
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPO was added gene: TPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A