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| Congenital hypothyroidism v0.52 | JAG1 | Zornitza Stark Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.52 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.52 | JAG1 | Zornitza Stark Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 to Alagille syndrome, MIM#118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.51 | JAG1 | Zornitza Stark Classified gene: JAG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.51 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.48 | JAG1 |
Chris Richmond gene: JAG1 was added gene: JAG1 was added to Congenital hypothyroidism. Sources: Expert Review,Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 26760175; 28653287 Phenotypes for gene: JAG1 were set to Alagille syndrome 1 Review for gene: JAG1 was set to GREEN Added comment: Het LoF cause Alagille. Notch pathway involved in thyroid development. Disruption causes hypothyroidism in zebrafish. PMID 28653287 Thyroid function in 21 patients with JAG1 mutations was analyzed and genetic analysis of JAG1 was carried out in an Italian cohort of 100 CH patients. De Filippis et al. reported the predominance of CH in 6/21 patients with Alagille syndrome, two of which had thyroid hypoplasia. PMID 26760175 Sources: Expert Review, Literature |
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