TG

thyroglobulin
OMIM: 188450, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TG in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thyroid dyshormonogenesis 3, MIM# 274700

Red TG in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Thyroid dyshormonogenesis 3
  • OMIM #274700

Green TG in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 3

Green TG in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism
  • Thyroid dyshormonogenesis 3, 274700
  • TDH3
  • low thyroglobulin, goitre

Green TG in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thyroid dyshormonogenesis 3 - MIM#274700

Green TG in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Thyroid dyshormonogenesis 3, MIM# 274700
Tags
  • treatable
  • endocrine