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Ichthyosis and Porokeratosis v2.0 MVK Gene migrated from ENSG00000110921 to ENSG00000110921 (gene set migration)
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
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Marked gene: MVK as ready
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Classified gene: MVK as Green List (high evidence)
Ichthyosis and Porokeratosis v1.16 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.15 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVK were set to 41240373; 26202976
Phenotypes for gene: MVK were set to porokeratosis 3, disseminated superficial actinic type MONDO:0008293
Review for gene: MVK was set to GREEN
gene: MVK 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