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  3. DUOX2
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Cerebral Palsy

Gene: DUOX2

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual reported with biallelic variants (1 missense, 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Congenital hypothyroidism is associated with increased risk of cerebral palsy if untreated, amongst other developmental sequelae.
Sources: Literature
Created: 13 Jun 2024, 3:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 6, MIM#607200

Publications

Created: 13 Jun 2024, 3:18 a.m.

Panel version: 1.275

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Thyroid dyshormonogenesis 6, MIM#607200
OMIM
606759
Clinvar variants
Variants in DUOX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duox2 has been classified as Red List (Low Evidence).

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duox2 has been classified as Red List (Low Evidence).

13 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: DUOX2 was added gene: DUOX2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DUOX2 were set to PMID: 38693247 Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6, MIM#607200 Review for gene: DUOX2 was set to RED