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| Systemic Autoinflammatory Disease_Periodic Fever v1.6 | PMVK | Zornitza Stark Phenotypes for gene: PMVK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, PMVK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.5 | PMVK | Zornitza Stark Classified gene: PMVK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.5 | PMVK | Zornitza Stark Gene: pmvk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever 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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