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| 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 |
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| 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 |
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