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BabyScreen+ newborn screening

Gene: TPO

Green List (high evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene disease association
Congenital hypothyroidism
Likely detected on traditional NBS
Treatment: thyroxine
TFT's for non genetic Ix
Created: 29 Nov 2022, 3:43 a.m. | Last Modified: 29 Nov 2022, 3:43 a.m.
Panel Version: 0.1121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 2A MIM#274500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Thyroid dyshormonogenesis 2A MIM#274500
Tags
treatable endocrine
OMIM
606765
Clinvar variants
Variants in TPO
Penetrance
None
Panels with this gene

History Filter Activity

29 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpo has been classified as Green List (High Evidence).

29 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPO were changed from Thyroid dyshormonogenesis 2A to Thyroid dyshormonogenesis 2A MIM#274500

29 Nov 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TPO. Tag endocrine tag was added to gene: TPO.

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A