Ataxia and cerebellar anomalies - narrow panelGene: MVK
At least 4 families reported with early onset ataxia as a feature of the condition.
Created: 12 Sep 2020, 6:34 a.m. | Last Modified: 12 Sep 2020, 6:34 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mevalonic aciduria MIM#610377
Rebecca Foulger: Comment on list classification
gene: MVK was added gene: MVK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377