1. Panels
  2. Congenital hypothyroidism
  3. DUOX1
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Congenital hypothyroidism

Gene: DUOX1

Amber List (moderate evidence)
DUOX1 (dual oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000137857
EnsemblGeneIds (GRCh37): ENSG00000137857
OMIM: 606758, Gene2Phenotype
DUOX1 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

11 cases, but digenic model, with variants in other genes
Sources: Literature
Created: 3 Feb 2021, 4:31 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
congenital hypothyroidism, No OMIM #

Publications

Created: 3 Feb 2021, 4:31 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital hypothyroidism, No OMIM #
OMIM
606758
Clinvar variants
Variants in DUOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duox1 has been classified as Amber List (Moderate Evidence).

3 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: duox1 has been classified as Amber List (Moderate Evidence).

3 Feb 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: DUOX1 was added gene: DUOX1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOX1 were set to PMID: 29650690 Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #