IYD

iodotyrosine deiodinase
OMIM: 612025, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green IYD in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM# 274800

Red IYD 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
  • Genetic Health Queensland
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM#274800

Green IYD in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM# 274800

Green IYD in Congenital hypothyroidism

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • childhood/adolescent onset hypothyroidism
  • Thyroid dyshormonogenesis 4, 274800
  • normal iodide organification
  • Congenital hypothyroidism
  • raised urinary MIT and DIT
  • goitre

Red IYD in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Thyroid dyshormonogenesis 4 - MIM#274800

Green IYD in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM# 274800
Tags
  • treatable
  • endocrine