DUOXA2

dual oxidase maturation factor 2
OMIM: 612772, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DUOXA2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thyroid dyshormonogenesis 5 - MIM#274900

Red DUOXA2 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 5, MIM#274900

Green DUOXA2 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 5, MIM# 274900

Green DUOXA2 in Congenital hypothyroidism

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Thyroid dyshormonogenesis 5, 274900

Red DUOXA2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Thyroid dyshormonogenesis 5, MIM# 274900

Green DUOXA2 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 5, MIM# 274900
Tags
  • treatable
  • endocrine