| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.3737 | DUOX1 | Zornitza Stark Marked gene: DUOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3737 | DUOX1 | Zornitza Stark Gene: duox1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3737 | DUOX1 | Zornitza Stark Classified gene: DUOX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3737 | DUOX1 | Zornitza Stark Gene: duox1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3736 | DUOX1 | Zornitza Stark reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | DUOX1 |
Krithika Murali gene: DUOX1 was added gene: DUOX1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOX1 were set to 29650690; 34019632 Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM # Review for gene: DUOX1 was set to AMBER Added comment: Gene reviewed for PanelApp in Feb 2021 - "11 cases, but digenic model, with variants in other genes". No further case reports published since. PMID 34019632 provide evidence of recapitulation of congenital hypothyroidism phenotype in duox mutant zebrafish. Sources: Literature |
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