| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.35 | DUOX2 | Zornitza Stark Tag treatable tag was added to gene: DUOX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.22 | DUOX2 | Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.2 | DUOX2 | Zornitza Stark Marked gene: DUOX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.2 | DUOX2 | Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.2 | DUOX2 | Zornitza Stark Phenotypes for gene: DUOX2 were changed from transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism to Thyroid dyshormonogenesis 6, 607200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | DUOX2 |
Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DUOX2 were set to 24423310; 16134168; 27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease; 12110737; 27166716 Phenotypes for gene: DUOX2 were set to transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism |
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