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Newborns main panel

Gene: DUOXA2

Green List (high evidence)
DUOXA2 (dual oxidase maturation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000140274
EnsemblGeneIds (GRCh37): ENSG00000140274
OMIM: 612772, Gene2Phenotype
DUOXA2 is in 1 panel

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/32252219/ see also PMID: 31044655
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 5
OMIM
612772
Clinvar variants
Variants in DUOXA2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonogenesis 5 for gene: DUOXA2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonogenesis 5 for gene: DUOXA2

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DUOXA2. Added phenotypes Thyroid dyshormonogenesis 5 for gene: DUOXA2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to DUOXA2. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Thyroid dyshormonogenesis 5 for gene: DUOXA2

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DUOXA2 was added gene: DUOXA2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal