DUOXA1

dual oxidase maturation factor 1
OMIM: 612771, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DUOXA1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • congenital hypothyroidism, No OMIM #

Amber DUOXA1 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 Amber
  • Literature
Phenotypes
  • congenital hypothyroidism, No OMIM #

Red DUOXA1 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital hypothyroidism, No OMIM #