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Mendeliome

Gene: DUOX1

Red List (low evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Very limited genetic evidence for a gene-disease association with congenital hypothyroidism
PMID: 29650690 - 11 variants reported in 11 CH cases, 5 with bialleic DUOX2 that would explain phenotype, 1 in cis with a LP DUOX2 variant, 2 LB, 1 heterozygous splice site variant & 2 het missense would be VUS or borderline LB. The authors conducted a gene-disease validity assessment and classified the association with CH as limited.

PMID: 28633507 - reported consanguineous family with a homozygous DUOX1 frameshift variant in cis with a homozygous DUOX2 nonsense variant. Authors suggest this is a digenic cause for severe CH

No pathogenic variants reported in ClinVar.
Created: 28 Feb 2025, 10:34 a.m. | Last Modified: 28 Feb 2025, 10:34 a.m.
Panel Version: 1.2325

Mode of inheritance
Unknown

Phenotypes
congenital hypothyroidism MONDO:0018612

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

11 cases, but digenic model, with variants in other genes.
Sources: Expert Review
Created: 3 Feb 2021, 9:35 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
congenital hypothyroidism, No OMIM #

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • congenital hypothyroidism MONDO:0018612
OMIM
606758
Clinvar variants
Variants in DUOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 1

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DUOX1 were changed from congenital hypothyroidism, No OMIM # to congenital hypothyroidism MONDO:0018612

28 Feb 2025, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DUOX1 were set to 29650690

28 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: duox1 has been classified as Red List (Low Evidence).

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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