TPO:Ensemblv115

thyroid peroxidase
OMIM: 606765, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TPO in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Thyroid dyshormonogenesis 2A

Green TPO in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Congenital hypothyroidism
  • Iodide organification defect
  • goitre
  • TDH2A
  • Thyroid dyshormonogenesis 2A, 274500

Green TPO in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 2A MIM#274500
Tags
  • treatable
  • endocrine