| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis and Porokeratosis v1.18 | PMVK | Bryony Thompson Marked gene: PMVK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.18 | PMVK | Bryony Thompson Gene: pmvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.18 | PMVK | Bryony Thompson Classified gene: PMVK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.18 | PMVK | Bryony Thompson Gene: pmvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.17 | PMVK |
Bryony Thompson gene: PMVK was added gene: PMVK was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMVK were set to 41240373; 26202976 Phenotypes for gene: PMVK were set to porokeratosis 1, Mibelli type MONDO:0008290 Review for gene: PMVK was set to GREEN gene: PMVK was marked as current diagnostic Added comment: Well-established gene-disease association. Loss of function is the mechanism of disease. Characterised as an autoinflammatory keratinisation disease. Sources: Literature |
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