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  2. Congenital hypothyroidism
  3. DUOXA2
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Congenital hypothyroidism

Gene: DUOXA2

Green List (high evidence)
DUOXA2 (dual oxidase maturation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000140274
EnsemblGeneIds (GRCh37): ENSG00000140274
OMIM: 612772, Gene2Phenotype
DUOXA2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 3 Feb 2021, 9:44 a.m. | Last Modified: 3 Feb 2021, 9:44 a.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 5, MIM# 274900

Created: 3 Feb 2021, 9:44 a.m.
Last Modified: 3 Feb 2021, 9:44 a.m.
Panel version: 0.22

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Thyroid dyshormonogenesis 5, 274900
OMIM
612772
Clinvar variants
Variants in DUOXA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa2 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DUOXA2 were changed from transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 to Thyroid dyshormonogenesis 5, 274900

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DUOXA2 was added gene: DUOXA2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DUOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOXA2 were set to 27349010; 21367925; 28100324; 26758695; 18042646 Phenotypes for gene: DUOXA2 were set to transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5