Ataxia and cerebellar anomalies - narrow panelGene: MVK
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Mevalonic aciduria OMIM:610377. At least nine variants reported at least seven unrelated cases.
Created: 27 Apr 2021, 3:54 p.m. | Last Modified: 27 Apr 2021, 3:54 p.m.
Panel Version: 2.141
Comment on phenotypes: Variants are associated with Hyper-IgD syndrome OMIM:260920 (biallelic) & Porokeratosis 3, multiple types OMIM:175900 (monoallelic).
Created: 27 Apr 2021, 3:40 p.m. | Last Modified: 27 Apr 2021, 3:40 p.m.
Panel Version: 2.140
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
Tag Q2_21_rating tag was added to gene: MVK.
Publications for gene: MVK were set to 24896178; 26503795
Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria OMIM:610377; mevalonic aciduria MONDO:0012481
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