| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vitreoretinopathy v0.7 | JAG1 | Zornitza Stark Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v0.7 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v0.7 | JAG1 | Zornitza Stark Classified gene: JAG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v0.7 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v0.6 | JAG1 |
Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Vitreoretinopathy. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 31273345 Phenotypes for gene: JAG1 were set to Familial exudative vitreoretinopathy Review for gene: JAG1 was set to AMBER Added comment: Three families reported with rare variants in JAG1: c.413C>T p. (A138V), c.1415G>A p. (R472H), and c.2884A>G p. (T962A. Some functional data. Sources: Literature |
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