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Fetal anomalies

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established association with thyroid dyshormonogenesis. 3 affected individuals from 2 unrelated families reported with fetal goitre.

34220711 Rodrigues et al 2021 - report 2 siblings who were diagnosed with fetal goitre on antenatal ultrasound at 26 and 32 weeks gestation. Pathogenic compound het TPO variants identified inherited from unaffected carrier parents.

30662777 - report a proband diagnosed with fetal goitre at 29 weeks gestation. Compound heterozygous TPO variants identified.
Sources: Literature
Created: 21 Feb 2022, 9:19 a.m.

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
  • Literature
Phenotypes
  • Thyroid dyshormonogenesis 2A - MIM#274500
OMIM
606765
Clinvar variants
Variants in TPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 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).

21 Feb 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).

21 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: TPO was added gene: TPO was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPO were set to 34220711; 30662777 Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A - MIM#274500 Review for gene: TPO was set to GREEN