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Fetal anomalies

Gene: TPO

Red List (low evidence)
TPO (thyroid peroxidase)
EnsemblGeneIds (GRCh38): ENSG00000115705
EnsemblGeneIds (GRCh37): ENSG00000115705
OMIM: 606765, Gene2Phenotype
TPO is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

Green in congenital hypothyroidism and severe paediatric disorders. Can this be detected prenatally - suspect it can but very rare. Not complete overlap between congenital hypothyroidism annd fetal anomaly panel. PMID:34220711; 30662777 case reports - Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Red - would suggest hypothyriodism panel instead.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 2A, OMIM:274500

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Thyroid dyshormonogenesis 2A, OMIM:274500
OMIM
606765
Clinvar variants
Variants in TPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TPO was added gene: TPO was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPO were set to 30662777; 34220711 Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A, OMIM:274500