Hereditary ataxiaGene: MVK
Associated with phenotype in OMIM, not in G2P. At least 9 variants reported in numerous cases of Mevalonic aciduria (with or without Hyper-IgD syndrome). Although in the majority of cases this condition results in infant death, PMID 12563048 reports teenage siblings in whom ataxia is the predominant clinical manifestation, with febrile attacks occuring less frequently.
Created: 15 Mar 2018, 5:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mevalonic aciduria 610377
This gene has been classified as Amber List (Moderate Evidence).
MVK was added to Hereditary ataxia panel. Sources: Literature
MVK was created by Sarah Leigh