IYD

iodotyrosine deiodinase
OMIM: 612025, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green IYD in Mendeliome


Version 1.4851

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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 1.780

1 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 0.280

2 reviews 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 0.120

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM# 274800

Red IYD in Fetal anomalies


Version 1.576

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

Green IYD in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.148

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