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Autoinflammatory Disorders v2.39 PMVK Bryony Thompson Mode of inheritance for gene: PMVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Autoinflammatory Disorders v2.38 MVK Bryony Thompson Phenotypes for gene: MVK were changed from Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377) to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377); porokeratosis 3, disseminated superficial actinic type MONDO:0008293
Autoinflammatory Disorders v2.37 PMVK Bryony Thompson Classified gene: PMVK as Green List (high evidence)
Autoinflammatory Disorders v2.37 PMVK Bryony Thompson Gene: pmvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v2.36 MVK Bryony Thompson Publications for gene: MVK were set to 29047407; 26409462
Autoinflammatory Disorders v2.35 Bryony Thompson Added reviews for gene PMVK from panel Ichthyosis
Autoinflammatory Disorders v2.34 MVK Bryony Thompson Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Autoinflammatory Disorders v2.33 Bryony Thompson Added reviews for gene MVK from panel Ichthyosis
Autoinflammatory Disorders v1.6 PMVK Zornitza Stark Phenotypes for gene: PMVK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, PMVK-related
Autoinflammatory Disorders v1.5 PMVK Zornitza Stark Classified gene: PMVK as Amber List (moderate evidence)
Autoinflammatory Disorders v1.5 PMVK Zornitza Stark Gene: pmvk has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.4 PMVK Peter McNaughton gene: PMVK was added
gene: PMVK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PMVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMVK were set to PMID: 37364720; 36410683
Phenotypes for gene: PMVK were set to Autoinflammation
Review for gene: PMVK was set to AMBER
Added comment: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.
Sources: Literature
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Marked gene: MVK as ready
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Autoinflammatory Disorders v0.100 MVK Zornitza Stark Publications for gene: MVK were set to
Autoinflammatory Disorders v0.99 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.98 MVK Crystle Lee reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MVK was set to Unknown