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  3. DUOX2
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Inflammatory bowel disease

Gene: DUOX2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Note bi-allelic variants have been associated with Thyroid dyshormonogenesis 6, MIM# 607200
Created: 3 Aug 2022, 6:02 a.m. | Last Modified: 3 Aug 2022, 6:02 a.m.
Panel Version: 0.80

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 3 Aug 2022, 6:02 a.m.
Last Modified: 3 Aug 2022, 6:02 a.m.
Panel version: 0.80

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

Created: 1 Aug 2022, 9:51 p.m.

Panel version: 0.110

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, DUOX2-related
OMIM
606759
Clinvar variants
Variants in DUOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Dec 2023, 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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Aug 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DUOX2 were changed from Colitis to Inflammatory bowel disease, MONDO:0005265, DUOX2-related

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).

1 Aug 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: DUOX2 was added gene: DUOX2 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOX2 were set to PMID: 35429653; 27373512; 26301257; 28683258 Phenotypes for gene: DUOX2 were set to Colitis Review for gene: DUOX2 was set to AMBER