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Mendeliome

Gene: DUOX2

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

4 case reports of early onset colitis (1-4y) associated with monoallelic or biallelic variants in DUOX2. Also reported in 15 members of the same Ashkenazi Jewish family with a high incidence of adult-onset CD.
Created: 3 Aug 2022, 6:06 a.m. | Last Modified: 3 Aug 2022, 6:06 a.m.
Panel Version: 1.198

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease, MONDO:0005265, DUOX2-related

Publications

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

1mo girl with IBD and colonic polyps with compound het variants c.2524C>T and c.3175C>T with functional studies showing decreased H2O2 generation.
This case along with previous case reports - PMID: 28683258 & PMID: 35429653 suggest that biallelic DUOX2 variants should be part of evaluation for VEO-IBD.
Created: 14 Dec 2023, 12:59 a.m. | Last Modified: 14 Dec 2023, 12:59 a.m.
Panel Version: 0.110
4 case reports of early onset colitis (1-4y) associated with monoallelic or biallelic variants in NOX2. Also reported in 15 members of the same Ashkenazi Jewish family with a high incidence of adult-onset CD.
Sources: Literature
Created: 1 Aug 2022, 9:51 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
neonatal onset IBD

Publications

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene-disease association
Created: 9 May 2022, 11:03 a.m. | Last Modified: 9 May 2022, 11:03 a.m.
Panel Version: 0.13991

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 6 - MIM#607200

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thyroid dyshormonogenesis 6 - MIM#607200
  • Inflammatory bowel disease, MONDO:0005265, DUOX2-related
OMIM
606759
Clinvar variants
Variants in DUOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2025, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DUOX2 were set to 35429653; 27373512; 26301257; 28683258

11 Nov 2022, 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 Aug 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis 6 - MIM#607200 to Thyroid dyshormonogenesis 6 - MIM#607200; Inflammatory bowel disease, MONDO:0005265, DUOX2-related

3 Aug 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DUOX2 were set to

3 Aug 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DUOX2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duox2 has been classified as Amber List (Moderate Evidence).

20 May 2022, 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).

20 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DUOX2 were changed from to Thyroid dyshormonogenesis 6 - MIM#607200

20 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DUOX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DUOX2 was added gene: DUOX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DUOX2 was set to Unknown