1. Panels
  2. Congenital hypothyroidism
  3. DUOXA1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital hypothyroidism

Gene: DUOXA1

Amber List (moderate evidence)
DUOXA1 (dual oxidase maturation factor 1)
EnsemblGeneIds (GRCh38): ENSG00000140254
EnsemblGeneIds (GRCh37): ENSG00000140254
OMIM: 612771, Gene2Phenotype
DUOXA1 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

12 cases, but digenic model with variants in other genes
Sources: Literature
Created: 3 Feb 2021, 4:32 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
congenital hypothyroidism, No OMIM #

Publications

Created: 3 Feb 2021, 4:32 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital hypothyroidism, No OMIM #
OMIM
612771
Clinvar variants
Variants in DUOXA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa1 has been classified as Amber List (Moderate Evidence).

3 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: duoxa1 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

Chirag Patel (Genetic Health Queensland)

gene: DUOXA1 was added gene: DUOXA1 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOXA1 were set to PMID: 29650690 Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM # Review for gene: DUOXA1 was set to AMBER