Periodic fever syndromes
Gene: MVKComment on list classification: Updated rating from Red to Green. Not a DD-confirmed gene but 1 green review and included in the Eligibility statement prior genetic testing list. Plus >3 OMIM-reported cases of MVK mutations causing fever phenotypes including HIDS (OMIM:260920).Created: 16 Jan 2017, 11:21 a.m.
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Patients with the HIDS phenotype (OMIM:260920) typically present only with recurrent episodes of fever and associated inflammatory symptoms, whereas patients with mevalonic aciduria (OMIM:610377) show, in addition to these episodes, developmental delay, dysmorphic features, ataxia, cerebellar atrophy, and psychomotor retardation and may die in early childhood.Created: 16 Jan 2017, 11:12 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 16 Jan 2017, 11:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were changed from Hereditary Periodic Fever Syndromes; Mevalonate kinase deficiency; Hyper-IgD syndrome, 260920; Mevalonic aciduria, 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MVK was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene MVK were set to Hereditary Periodic Fever Syndromes; Mevalonate kinase deficiency; Hyper-IgD syndrome, 260920; Mevalonic aciduria, 610377
MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory
MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory