| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v1.13 | EMP2 | Zornitza Stark Marked gene: EMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v1.13 | EMP2 | Zornitza Stark Gene: emp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v1.13 | EMP2 | Zornitza Stark Classified gene: EMP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v1.13 | EMP2 | Zornitza Stark Gene: emp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v1.12 | EMP2 |
Zornitza Stark gene: EMP2 was added gene: EMP2 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: EMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EMP2 were set to 40758889 Phenotypes for gene: EMP2 were set to Ichthyosis, MONDO:0019269, EMP2-related Review for gene: EMP2 was set to AMBER Added comment: Recurrent de novo missense variant associated with progressive symmetric erythrokeratoderma, mechanism appears GoF. Sources: Literature |
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