Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: DUOXA2

Red List (low evidence)

DUOXA2 (dual oxidase maturation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000140274
EnsemblGeneIds (GRCh37): ENSG00000140274
OMIM: 612772, Gene2Phenotype
DUOXA2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typically presents post-natally.
Created: 21 Feb 2022, 7:50 a.m. | Last Modified: 21 Feb 2022, 7:50 a.m.
Panel Version: 0.3739

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association with congenital hypothyroidism
Sources: Literature
Created: 21 Feb 2022, 1:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 5, MIM# 274900

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Thyroid dyshormonogenesis 5, MIM# 274900
OMIM
612772
Clinvar variants
Variants in DUOXA2
Penetrance
None
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa2 has been classified as Red List (Low Evidence).

21 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa2 has been classified as Red List (Low Evidence).

21 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: DUOXA2 was added gene: DUOXA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900 Review for gene: DUOXA2 was set to GREEN