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  2. Congenital hypothyroidism
  3. DUOX2
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Congenital hypothyroidism

Gene: DUOX2

Green List (high evidence)
DUOX2 (dual oxidase 2)
EnsemblGeneIds (GRCh38): ENSG00000140279
EnsemblGeneIds (GRCh37): ENSG00000140279
OMIM: 606759, Gene2Phenotype
DUOX2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 3 Feb 2021, 9:43 a.m. | Last Modified: 3 Feb 2021, 9:43 a.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 6, MIM# 607200

Created: 3 Feb 2021, 9:43 a.m.
Last Modified: 3 Feb 2021, 9:43 a.m.
Panel version: 0.22

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Thyroid dyshormonogenesis 6, 607200
Tags
treatable
OMIM
606759
Clinvar variants
Variants in DUOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DUOX2.

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duox2 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: DUOX2 were changed from transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism to Thyroid dyshormonogenesis 6, 607200

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: DUOX2 was added gene: DUOX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DUOX2 were set to 24423310; 16134168; 27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease; 12110737; 27166716 Phenotypes for gene: DUOX2 were set to transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism